GWAS Annotated Elements: CACNA1A

Gene: calcium voltage-gated channel subunit alpha1 A

Significance Threshold: -log10(P) ≥ 6.0

GHID GWAS Hit Lead SNP -log10P Type Elite Association Location TFBSs
GH19J013011 - 19:13012936:AG:A 1.8271 Promoter/Enhancer Elite eRNA_co-expression chr19:13011599-13028789
EZH2SUZ12RNF2KDM4AHNRNPLKDM1APOLR2AL3MBTL2ZFXAGO1HDAC2POLR2GMAXAGO2CTCFNRF1E2F6ZBTB33CBX1RELBFOSTCF12ZBTB33CHD4POLR2ASETDB1GABPB1E4F1ZNF143RBFOX2CTCFEP400ZHX2L3MBTL2KDM1AMNTXRCC5TCF7L2ZNF592ZSCAN29SMARCA4POLR2GATF3HDAC1JUNDARID1BSP1ESRRADPF2MYCMAXSKIFOSHNRNPLCREMC11orf30TCF7NR2C1NR2F2TBX3NR2F6ZBTB2HDAC2ZNF316CBFA2T2BCOREP300HES1MGANCOA1MYNNZBTB7ANR2F1RBM39NFE2L2USF2MAFKJUNZBTB33HNF4AFOSL2NRF1BHLHE40FOSL1RXRAGATAD2AHNF4GNFE2HNRNPLLMITFNCOR1TFAP4E2F6SMARCE1ZNF384E2F7CBFA2T3CTCFRBM39SP1EGR1TAF15POLR2AZFXARID1BHDAC1ZBTB7AGATAD2AZBTB33HNRNPLTCF12ZFP91YY1EGR1CTBP1RNF2GATAD2AMLLT1L3MBTL2MAXBHLHE40ARID1BZNF592ZBTB33MGAMNTMYCMAXE2F6SMARCA4RNF2DACH1EGR1ZNF384NCOA1UBTFKLF16NRF1IKZF1XRCC5PRDM10POLR2AIKZF1CHD1CTCFEGR1PHF8RNF2ZFXZBTB33CTBP1KDM5BIKZF1POLR2AUBTFCHD1SP1NCOA6RNF2CHD7EP300RBBP5JUNDTCF12GABPASP1ZNF143EGR1POLR2ATCF7L2YY1ATF2ATF7CTCFJUNDSUZ12POLR2ARBFOX2CTCFRNF2HNRNPLZNF384PHF8HNRNPKZNF143TCF12POLR2ANCOR1BRD4HNF4AAGO2HNF4GSIN3AASH2LYY1EP300MAFKSP1POLR2GMAFFNFICCREMGATA4HNRNPH1XRCC5RBM39HDAC1SKIMAXRXRACTCFGATA1ZHX2TBPNR2F2RAD21SAP30ZZZ3KDM1ASOX13CCAR2RBFOX2RCOR1PTBP1ZSCAN29NRF1EP400RFX5KDM4ANBNNEUROD1ZNF384EEDJUNDHDAC2CC2D1ACTBP1MNTMLLT1PKNOX1FOXK2KDM5BATF3IKZF1MYCIKZF2ARNTPRDM10GABPB1HES1ZNF24ZNF318MYNNAFF1ZBTB33GMEB1CHD1ZBTB5ARID1BZBTB2GATAD2AMTA1DPF2MTA2SMARCC2NUFIP1TRIM24EHMT2ASH1LBHLHE40MXI1BCORNFXL1L3MBTL2MCM7ZNF184PCBP1RLFZNF639TAL1MGAZEB2SMARCA4ZBTB40NCOA1RESTE2F6NFATC3TCF12ARID2EGR1PYGO2TAF1SMARCE1ZNF384PCBP2SUZ12POLR2GEGR1RBFOX2AGO2BMI1MAXZBTB33ZNF263PCBP1POLR2AHNRNPLCTCFZFXRBFOX2HNRNPLHDAC1POLR2ACHD4HNRNPUL1CREMASH2LKDM1AGABPARAD21EP300MAXRXRASP1HNF4AFOXA2FOXA1NR2F6JUNDATF3HNF1AEGR1ETV4TAF1TBX3TFAP4ZHX2TBL1XR1YY1SOX13GATA4ARID3ATCF7CEBPBSKIZNF24HDAC2CTCFMNTETS1NCOR1RESTCCAR2FOXP1ELF1ZBTB7ARCOR1FOSL2FOXK2LCORL
GH19J013206 - 19:13209188:C:G 1.3824 Enhancer Elite eQTLs,Distance chr19:13206801-13211446
CTCFGABPAGATAD2BDPF2ZNF687BHLHE40IKZF2ZNF444MLLT1NFICSKILPKNOX1NFXL1NFATC3IKZF1ZNF143ATF2FOXK2TRIM22TBL1XR1JUNBATF7MXI1RELBZNF263EP300BHLHE40NBNEBF1TBX21SPI1MEF2BBCL11AMEF2CBATFRUNX3CTCFMTA2MEF2APOLR2ATCF12MAXPAX5IKZF2EEDZBTB33RUNX3ZNF143EBF1EBF1GMEB1MNTKDM1AMAX
GH19J013212 - None 0.0000 Enhancer - Distance chr19:13212946-13213096
POLR2ACTCFNBNZNF444XRCC5RESTTCF12TRIM22ZNF217NCOR1ZNF143HDAC2MAXCBX1TBX21AFF1YY1CC2D1ARB1ZFP91ZNF24PTBP1SMC3JUNDPHF20SMARCA5ZBTB7BZNF263RLFZMYM3RAD21RCOR1BCORKDM1ASP1CHD4RBM25MIER1ZNF207
GH19J013213 - 19:13213399:C:G 0.9545 Enhancer - eRNA_co-expression,Distance chr19:13213369-13213702
CTCFTCF12NCOR1PTBP1SMARCA5ZBTB7BKDM1ASP1CHD4MIER1ZNF207MLLT1ZNF184ZNF316
GH19J013215 - 19:13216138:G:A 1.1020 Enhancer Elite eQTLs,Distance chr19:13215126-13216343
MLLT1ZBTB33RAD51ZNF384MITFIKZF1POLR2AUSF1NFATC3NFICIKZF2BHLHE40TRIM22RELBATF7NBNCREMARID1BJUNDRUNX3FOSL2FOSBATFATF3USF1PKNOX1
GH19J013234 - 19:13234731:TCCCCTACCGGAAGAGAAGGGCACGC:T 1.0919 Enhancer Elite Distance chr19:13234400-13235256
ZNF24CTCFMNTSMARCA4EP400ZFP91ATF7GATA3L3MBTL2ARID1BDPF2SMARCE1ESRRAMGAIKZF1GABPAZNF579CTBP1MTA3E4F1NCOA1NFICEGR1GABPB1RESTMYCHDAC1ZNF263E2F8ARNTXRCC5SOX6RNF2CC2D1AELF1ELK1SP1ZBTB7ACBX3TAF7SIN3BBHLHE40JUNZNF143EHMT2TEAD4POLR2ASTAT3RAD21PHF20MLLT1SMC3SMARCA5MAXJUNDCREMATF3HCFC1TRIM22RB1EEDETV4ZBTB40GMEB1ZNF444ELF4CBX1
GH19J013241 - 19:13241921:G:A 0.4161 Enhancer - Distance chr19:13241826-13241956
CTCFMEF2BTRIM22MYCZNF143EBF1RAD21
GH19J013247 - 19:13247858:G:A 0.5249 Enhancer Elite eQTLs,Distance chr19:13247426-13248201
CTCFCTBP1HDAC2ARID3ATEAD4RESTRUNX3GABPABACH1FOSYY1TRIM22NANOGRAD21SMC3ZNF143NFE2ZNF263EGR1JUNDIKZF1SPI1KDM1A
GH19J013260 - 19:13260988:T:G 0.6528 Enhancer Elite Distance chr19:13260598-13262200
ZBED1ASH2LRBBP5MTA3TBX21TRIM28ATF2ZHX2RELBNR2F6RAD51CBFBTRIM22FOSCBFA2T3TCF12NFATC3GATAD2BZNF507ARID3AMNTEP300ATF3FOSL2CTBP1MEIS2SKILRNF2CTCFETV6MEF2BELF1TBL1XR1RCOR1ZNF687ZNF217JUNDBHLHE40IKZF1MITFUSF1JUNBDPF2USF2BMI1ATF7POLR2ASPI1TBPCREMJUNZSCAN29PBX3NR2F1PKNOX1POU2F2IKZF2PAX5IRF4SMARCA4CUX1MEF2CE2F1RUNX3MTA2CREB1YY1EBF1NFICARID1BBATFSMARCE1FOSL1EEDMEF2ABCL11ARAD21SMC3YY1CTCF
GH19J013262 - 19:13262597:A:T 0.6383 Enhancer - Distance chr19:13262486-13262656
CTCFTRIM22ZEB2GATAD2BARID3ACTBP1RAD21RESTGATA1ZNF143KDM1ASMC3YY1RCOR1TBL1XR1SMARCA5ESRRABCORGATA2ZNF384ZMYM3GATA3RBM25
GH19J013276 - 19:13277738:C:T 0.9310 Enhancer Elite Distance chr19:13276766-13277800
SIN3ANRF1CTCFRBM39ZNF263RELBTRIM28MAXNBNZNF217SMARCA5CBX1CHD4RB1KDM1AZNF639BHLHE40XRCC5SKILRBM25ZBTB33BCORPTBP1RCOR1RAD21JUNZNF143CTBP1HDAC2ATF7MEIS2CREMSMC3HDAC1TRIM22ARID3AZNF384YY1RAD51NCOA1ESRRAZNF24IRF4FOXM1ZNF207ZNF444RESTTCF12TBX21POLR2AZMYM3SRFSKIIRF1CEBPBZFXMYBELF1MTA3RUNX3
GH19J013278 - 19:13278256:G:A 0.4725 Enhancer - Distance chr19:13278066-13278256
CTCFTRIM22ZNF384RAD21ZBTB7AXRCC5ZNF263ZNF444YY1NBNCREMCBX1ZNF143CBX5SMC3SMARCA5ZFP91ZMYM3ZNF24KDM1ARBM25RLFRCOR1PHF20IKZF1HDAC2BCORZBTB7BCHD4HDAC1ARNTPYGO2DNMT1PTBP1ASH1L
GH19J013333 - 19:13334050:T:A 0.7450 Enhancer - eRNA_co-expression,Distance chr19:13333880-13334119 -
GH19J013334 - 19:13335028:G:A 0.3547 Enhancer - Distance chr19:13334980-13335457
CTCFRAD21GABPB1ZBTB40EP400YY1MGAMYCL3MBTL2EHMT2MAXGABPATRIP13
GH19J013396 - 19:13396843:CT:C 0.3674 Enhancer Elite Distance chr19:13396206-13397065
L3MBTL2EP400MGAYY1RXRAMNTZBTB33CTCFDPF2MAXSP1GABPB1ATF7RAD51EP300NR2F1GABPAZNF282HDAC1ATF3EGR1SMAD1ZNF507NR2F2CEBPBE2F6USF2HNF4GBHLHE40RAD21FOXK2USF1SIX5AFF1FOSZNF217JUNDZBTB40RESTZEB2CTBP1MYCELF4HNF4ANFE2HCFC1SIN3ASUZ12MITFELF1ELK1ZNF143PRDM10E4F1ETS1IKZF1CBFA2T3ZFP91TCF12TAL1CBFA2T2FOXM1ARID1B
GH19J013398 - 19:13399743:C:T 0.5760 Enhancer Elite Distance chr19:13398289-13400292
ZNF830GATA2USF1USF2MAFKFOSRESTCEBPBRAD21YY1SMARCC2DACH1ZSCAN29C11orf30GATAD2BJUNBARID3AATF3JUNDGABPB1E4F1ZNF316MAFKJUNFOSEP300STAT3HDAC1DPF2IRF1ARID1BBACH1MTA2MAFFMYCSMARCA4NFE2ZNF639NCOA1NFATC3ZNF384NFE2L2IKZF1SMARCE1EHMT2CTBP1ZFP91BCORPHF20CBX1KDM1ARBM25PTBP1ZNF830HDAC2ZMYM3SMARCA5
GH19J013401 - None 0.0000 Enhancer - Distance chr19:13401526-13401676
ZBTB2ZNF592KAT8RNF2MTA3GMEB1IKZF1E4F1CREB3L1ZEB2CBX3ZNF217AFF1ATF7ASH1LMYCHCFC1ELF1MITFIRF1YY1MBD2RBM25TEAD4USF2SUZ12ZNF143CBFA2T2RAD51TBPMAXCREMSTAT5AJUNDSIX5STAT1ELF4ATF3JUNSKILIRF2FOSUSF1POLR2AGABPB1RESTSTAT3
GH19J013409 - 19:13409152:T:C 0.3877 Enhancer - Distance chr19:13409033-13409178
SMC3RAD21RFX1EP300MXI1ATF7ATF2
GH19J013425 - 19:13425426:G:C 1.1889 Enhancer - Distance chr19:13425306-13425456 -
GH19J013441 - None 0.0000 Enhancer - Distance chr19:13441966-13442116
HDAC2RESTZNF263SIN3AZNF316MIER1XRCC5HDAC1RCOR1HCFC1SAP30EHMT2CHAMP1GABPB1NCOA1ZBTB40MAXUSF1NCOA6MYCZNF143GABPACREMRB1ZBTB33SPI1AFF1
GH19J013459 - 19:13460227:A:G 1.1571 Enhancer - Distance chr19:13459000-13460856
POLR2ATAF7BACH1JUNDEP300SP1MAFKEZH2RESTMNT
GH19J013461 - None 0.0000 Enhancer - Distance chr19:13461626-13461776
REST
GH19J013486 - 19:13486692:GTC:G 0.8786 Enhancer - eRNA_co-expression,Distance chr19:13486478-13486778
HNRNPK
GH19J013491 - 19:13492917:G:A 1.6405 Enhancer - eQTLs,Distance chr19:13491509-13493005
CEBPBSPI1
GH19J013506 - None 0.0000 Enhancer - Distance chr19:13505546-13505696
POLR2A
GH19J013505 - 19:13506852:G:A 1.1560 Promoter/Enhancer Elite eQTLs,Distance chr19:13505746-13507731
POLR2APHF8SIN3AASH2LEZH2SMC3MXI1YY1KDM4ACTCFCHD1EZH2RAD21TAF7POLR2AYY1TBPTAF1RESTASH2LPHF8USF1USF2
GH19J013572 - 19:13574666:A:G 0.6613 Enhancer - eQTLs,Distance chr19:13572842-13575630
EP300CTCFRAD21MAXMYCSMC3USF1REST
GH19J013576 - 19:13577707:A:T 0.5345 Enhancer - Distance chr19:13576891-13578070 -
GH19J013589 - 19:13589355:G:C 1.0229 Enhancer Elite Distance chr19:13589326-13589496
CTCFRBM39CUX1SMC3RAD21HNRNPLLATF7HNRNPLNRF1ZNF444XRCC5TRIM22MYNNZNF143YY1MAXZBTB7AZBTB33RESTGABPASTAT1RB1ZBTB40JUNDBHLHE40RXRAZNF384
GH19J013597 - 19:13598559:T:TAAAA 1.4780 Enhancer - Distance chr19:13597583-13601100
CTCFSMC3ELF1RAD21ZNF143TRIM22SPI1MXI1POU2F2ARID2CC2D1AWRNIP1CEBPBRESTZNF207
GH19J013603 - 19:13603517:C:T 0.1058 Enhancer - Distance chr19:13603372-13604128
PHF20
GH19J013604 - 19:13604972:G:GAGAA 1.5510 Enhancer - Distance chr19:13604312-13605514
PHF20NFXL1ZNF639ZNF407ZNF512BZBTB2BRD9MTA1NFATC3
GH19J013605 - 19:13606259:A:G 0.3397 Enhancer - Distance chr19:13605807-13606705 -
GH19J013608 - 19:13608623:T:C 0.3703 Enhancer - Distance chr19:13608155-13608991
C11orf30ZNF316
GH19J013609 - 19:13610809:G:A 0.8607 Enhancer - Distance chr19:13609306-13612348
CTCFTFAP4FOXA2FOXA1RAD21RESTZNF217TCF12EP300RFX1BMI1
GH19J013612 - 19:13614875:G:A 0.9646 Enhancer - Distance chr19:13612484-13617441
RESTCUX1SMARCA4TCF12TEAD4EGR1CBFA2T2CBFA2T3BHLHE40ZNF24CTCF
GH19J013617 - 19:13617819:T:C 0.3898 Enhancer - eQTLs,Distance chr19:13617725-13618339
ZMYM3
GH19J013621 - 19:13621194:G:C 0.4018 Enhancer Elite eQTLs,Distance chr19:13621046-13622068
CTCFYY1MITFCREMGABPASTAT3FOSL2JUNDFOSRAD21BACH1ATF3BHLHE40RCOR1NFE2L2USF1JUNRESTMAFKUSF2
GH19J013627 - 19:13628030:G:A 0.4312 Enhancer - eQTLs,Distance chr19:13627488-13628854
SPI1
GH19J013629 - 19:13629271:T:G 0.3742 Enhancer Elite eQTLs,Distance chr19:13629257-13630488
JUNDCREB1MITFATF3FOSBHLHE40STAT3BCL3USF2CEBPBRAD51USF1MNT
GH19J013632 - 19:13632700:G:A 0.0753 Enhancer Elite TF_co-expression,Distance chr19:13632412-13634079
TRIM28KDM1ANFIBPKNOX1SIX4HNF4GETS1TFAP4EP300SMARCA4MAFFMAFKETV6HDAC2MLLT1ZNF512BHES1MTA2ZKSCAN1E4F1TRIM22ZBTB5ZBTB33SUZ12PLRG1ARHGAP35IRF5FOXK2
GH19J013636 - 19:13637117:CA:C 0.2970 Enhancer - Distance chr19:13636972-13637563
FOSJUND
GH19J013639 - 19:13639804:G:A 0.7370 Enhancer - eQTLs,Distance chr19:13639577-13642299
KDM1AZMYM3RBM25
GH19J013646 - 19:13647456:A:G 0.7597 Enhancer - eQTLs,Distance chr19:13646145-13647564
CEBPBNFICCTCF
GH19J013652 - 19:13653031:T:C 0.0779 Enhancer - Distance chr19:13652906-13653096
MYC
GH19J013665 - None 0.0000 Enhancer - Distance chr19:13665327-13665773
MTA2IKZF2TBX21ELF1RUNX3SPI1IKZF1IRF4BATF
GH19J013672 - None 0.0000 Enhancer - Distance chr19:13672666-13672796
L3MBTL2GABPB1EP300YY1ZBTB40E4F1CBX5ZNF143EHMT2CHAMP1NR2C1CBX1MITFPHF20ETV6ELF1RESTCREB1MAXATF2NFYBCBFA2T2E2F1USF2E2F8RAD51GABPAATF7HCFC1USF1TRIP13JUNDATF3SPI1CBX3CREMELF4ZNF384
GH19J013729 - 19:13730871:G:A 0.7388 Promoter/Enhancer Elite eQTLs chr19:13729476-13732572
NFRKBFOXA1ZNF639MAFKC11orf30ZNF592ZNF316NFE2L2NFE2ZFXGATAD2AZBTB33SMARCA5E4F1ZBTB40POLR2AHMBOX1MEF2BMTA3DPF2GATA1IKZF1NFATC3ZEB2TBPTCF12SMARCE1CBFBEP400ZNF217JUNDATF3ATF2NBNSP1BRD9ATF7MTA1SKILGATAD2BSMARCA4TCF7KDM1AFOSLEF1HDAC2RCOR1ETV6TRIM22NEUROD1EP300ARID1BNCOR1JUNBBCL3MEF2CMEF2AHDAC3CUX1CBFA2T3E2F1NFICIKZF2PAX5ZNF318RNF2MLLT1NR2F2STAT3ARID3AFOXA1JUNGATA2MYCEEDFOSL2RUNX3BRD4TBX21RUNX1DACH1MTA2BATFMCM7MAFFCREMSMARCC2ESRRAFOSL1NFE2NFRKBSRFMEIS2RELBPKNOX1BHLHE40CHD1TAL1TEAD4IRF4ZNF384GATAD2APOLR2GCEBPBNR2F1TBL1XR1ASH2LHDAC1BCL11AZBTB7ANRF1RBFOX2GATA3RESTRFX1GABPAFOXA2SMARCA5MNTYY1TAF7CBX3SOX6MAXTAF1AGO1FOXK2SIN3ARBM39ZBTB40SOX13ZNF207CTBP1MXI1MBD2XRCC5U2AF2TAF15KLF5CTCFCHD4HNF4AZNF143BMI1KDM5AHNRNPLLRAD21PMLSIN3BRB1RBM22USF1HCFC1USF2ZNF687ZNF639SUZ12SRFKDM4APHF8SMAD5GATA4L3MBTL2E2F6SIX5ZBTB2AFF1ZSCAN29KDM5BZNF24BCOR
GH19J013864 - 19:13866137:G:A 0.1982 Promoter/Enhancer Elite eRNA_co-expression chr19:13864066-13866839
SIN3AGATAD2BNR2F6RXRAEZH2MNTMAXMLLT1IKZF1IRF3L3MBTL2CTCFSKIZNF687BACH1SUZ12BHLHE40EGR1ZBTB7AEZH2YY1CTCFZFXPHF8TCF7L2NRF1ZNF687SKIPOLR2AIKZF1GATAD2BSIN3AETV4SUZ12TFAP4ZFP91NBNMLLT1EP300PKNOX1CREB1BCL3
GH19J014205 - 19:14206538:G:T 1.0572 Promoter/Enhancer Elite TF_co-expression chr19:14205399-14208066
RBFOX2KDM1AZNF444EZH2PRDM10SMC3EP300RAD21GATAD2BPOLR2ANRF1ZFXL3MBTL2CTCFZBTB40EGR1E2F6IKZF1BHLHE40PHF8POLR2AFIP1L1RBM39POLR2GSMARCA5RBFOX2MXI1BACH1ZBTB7AGATAD2BPCBP1RBM25MYCHNRNPLLYY1CREB3L1PRPF4NRF1BHLHE40EGR1RFX5ELF1CTBP1ZNF282MTA1EP400SP1ZNF24DPF2RESTATF7RUNX3SIN3AARNTMNTEP300RELBSOX6FOXM1RAD21MAXRB1JUNDZNF207CREME4F1GATA3SMARCE1NFIBNCOR1IKZF2NUFIP1ZSCAN29ZBTB40SMC3RUNX1ESRRAMTA3L3MBTL2LEF1ZNF217NEUROD1TBX21XRCC5E2F6ZNF574STAT1GMEB1KDM1ANFRKBSKILSMARCC2NCOA6TRIM22CC2D1AZFXTRIM24ATF3BRD9MLLT1ZBTB2ZNF639PHF21APKNOX1NBNTCF12HES1ZNF407TBX3CLOCKNCOA1CHAMP1ARID1BZNF444AFF1NR3C1ZNF184E2F8PRDM10ELF4BCORSMARCA4CDC5LTAL1MIER1MTA2ASH2LHDAC3ATF2ZNF318E2F1ATF4ZBTB5GABPB1NFATC3FOXK2SKILHDAC1TRIM28CREB1NR2F1DEAF1ZBTB33ZEB2POLR2GZEB1HDAC2KDM4BPHB2NEUROD1RCOR1GATAD2ARLFRFX1SMC3RFX5MYNNSTAT3SIN3ABMI1RNF2RAD51PHF21ATCF12ZFP91PYGO2KDM1ANUFIP1TBX3HDAC3PKNOX1NFIC