GWAS Annotated: CACNA1D

Gene: calcium voltage-gated channel subunit alpha1 D

GeneGHIDGWAS HitLead SNP-log10PTypeScoreEliteAssociation EvidenceLocationExternal LinksTFBSs
CACNA1DGH03J053320-None0.0000Enhancer82-Distancechr3:53320513-53321534ENSR3_9R6FH
NR3C1CTCF
CACNA1DGH03J053327-3:53328533:A:T0.6607Enhancer117-Distancechr3:53327951-53329543ENSR3_83KC28, ENSR3_83KC2L
NRF1POLR2ASPI1FOSSTAT3STAT3FOSARID1BNCOR1DPF2HDAC2GATA1POLR2ATRIM24CBFA2T3TCF12RCOR1CBFA2T2TAL1CEBPBTEAD4
CACNA1DGH03J053345-3:53347519:T:C0.6482Promoter/Enhancer667EliteDistancechr3:53345959-53348690ENSR3_BDKT5, DCP1A_1
CHD1TAF1ZBTB40E2F1POLR2AATF3ATF2ATF7CREB1JUNDFOXA2HNF4AIRF1NR2F6EP300SAP30EGR1SIN3AZMYM3KDM5ARBFOX2ZFP91CTCFHNRNPKZFXPOLR2GPHF8ASH2LPOLR2AYY1GABPB1CHD1CBFBHDAC2RELBEZH2ZBTB40RESTEP300HDAC1AGO2TAF1MLLT1TAF9BSMAD1C11orf30SMAD5PMLMXI1ZNF263TBPTCF7L2ZNF579EHMT2TAF7GABPACDC5LSMARCE1RBBP5ELF4ZNF316SOX13KDM1AKDM5BMNTGATA2ZNF282TRIM28PRPF4MTA2ZBED1GATA1IRF1MEF2BIKZF1PCBP1ZNF574NCOR1NFATC1PRDM10ZBTB7ACBX1CREB3L1E4F1IKZF2RBM22RCOR1U2AF1PTBP1NFATC3MAFKNBNFOXM1SREBF1ZBTB33MAXLEF1MYCSP1ARNTNRF1ZNF639NR2C1BCORTBL1XR1L3MBTL2MAFFMGAZNF217WRNIP1CBX2TFAP4HCFC1ZNF24TRIM22ZBTB11FOSL2ZNF444RFX5RNF2FOSGATA3CHAMP1CBFA2T3TAF15ZNF687STAT2HNRNPLLELK1EP400MBD2BMI1ATF7HNRNPUL1POU2F2SKILGATAD2BNFRKBTBX3KDM4AEEDELF1CBX3FUSZEB1JUNRAD21ETS1FOXA2NR2F1ATF2PHF20BACH1ETV4MTA1MTA3GATAD2ACUX1NEUROD1SMARCA4HNF4ASTAT1GMEB1CREB1PKNOX1ARID3ATRIM24XRCC5ZKSCAN1ESRRATEAD4HDAC3SMC3JUNDE2F8ZBTB2ZBTB7BE2F1NFE2ZHX1RBM39ZNF143SETDB1FIP1L1CREMNCOA1PHF21ACBX5TCF12FOXK2ETV6BHLHE40CCAR2ZEB2UBTFSIX5EGR1NR3C1MEIS2IRF3TCF7RBM25KDM4BIRF2MYNNSREBF2BCL3ZSCAN29RFX1HSF1RXRABRD4TAL1MEF2APAX5RUNX3CTBP1NFIBZMYM3FOXA1USF1ZNF592CEBPBZNF384NFE2L2BATFSRFU2AF2BRCA1ZHX2ZNF207USF2ZNF512BSIN3BKLF5RLFNANOGSMARCA5RB1MEF2CE2F4DPF2PBX3HNF4GSKINFICSTAT5ATHAP1E2F6IRF4SOX6MLLT1EP300PRPF4ZBTB33
CACNA1DGH03J053350-3:53350693:C:T0.6842Enhancer272EliteDistancechr3:53350599-53351200ENSR3_9R6Q6, ENSR3_5GJRXP
RBM25CTCFZNF184MNTSMC3GATA1HDAC2SMARCA4POLR2AGATA3CBFA2T3MTA1NR2F1CTBP1NBNATF7E2F1MYCETV6SMARCC2NR2F6MBD2TAL1ARID1BAFF1TCF12HDAC1CBFA2T2GATA2PHB2SPI1ZKSCAN1MYNNSMAD1HES1NCOR1NCOA1TRIM24NFE2TBL1XR1GABPARCOR1HMBOX1RAD51NR2F2CREMRNF2DPF2MTA2TEAD4KDM1APMLNFICCHAMP1SOX6ZNF282NR2C1PHF21ARAD21RXRAFOXM1RESTKLF16TRIM28SMARCE1STAT5AEP300HDAC3CC2D1AZNF24IKZF1ZNF263
CACNA1DGH03J053354-3:53354955:C:A0.5374Enhancer270EliteDistancechr3:53354778-53355851ENSR3_83KCKW
ZNF592E4F1L3MBTL2GATA1ZBTB2GATAD2ANUFIP1CTBP1YY1GMEB1HDAC1SMARCC2HDAC2RNF2ZNF24SOX6SKILMTA2TAF9BDPF2SMARCA4KDM1AKLF16HDAC3PKNOX1GATA2IKZF1ARNTJUNCBFA2T2TRIM24ARID1BCBFA2T3TAL1SMARCE1EP300JUNDATF3TCF12MTA1NCOR1ZEB2MEIS2TEAD4FOS
CACNA1DGH03J053371-None0.0000Enhancer1-Distancechr3:53371000-53371200ENSR3_83KCX5
FOXA2FOXK2FOXA1
CACNA1DGH03J053423-3:53423455:G:A0.5197Enhancer111-Distancechr3:53423097-53423783-
FOSATF3TBL1XR1JUNDRXRASKIFOSL2HNF4AATF2
CACNA1DGH03J053477-3:53480389:G:T0.6932Enhancer288EliteDistancechr3:53477525-53480835ENSR3_BDLK3
ZMYM3ZNF384RESTSREBF1RXRAPOLR2ASIN3AFOSL2USF1KDM1AXRCC5CHD4ETV4TBPRCOR1ATF2ASH2LJUNDTAF1GATA3FOXK2SKIFOXP1CTCFHNRNPUL1ZBTB33SP1FOXA1HNF4GNCOR1RBM22RAD21CREMTBX3ATF3BHLHE40GATA2HNF1AATF7ARID3ASOX13LCORLHDAC2ETS1ATMELF1TFAP4HNF4ANR3C1HDAC1EP300RXRANR2F6TCF7TCF12FOXA2RESTYY1GATA4CEBPBPOLR2GCTCFSP1HNF4AKDM1ASP1HNF4A
CACNA1DGH03J053492-3:53493412:G:C0.6566Promoter/Enhancer520EliteDistancechr3:53492723-53495000ENSR3_5GKPH6, ENSR3_5GKPHP, ENSR3_BDLMC, ENSR3_83KGKL, CACNA1D_1, CACNA1D_2
EZH2TAF15CTCFASH2LTAF1NANOGPOLR2AZFXEP300RAD21RBM39SIN3ASP1MXI1RBBP5ZEB1HDAC2MNTCTBP1SMC3TCF12FUSHNRNPLLKDM4APHF8YY1EZH2
CACNA1DGH03J053495-3:53495966:CG:C0.4075Enhancer153EliteDistancechr3:53495025-53496473ENSR3_C7BBQ, ENSR3_5GKPQZ
EZH2SUZ12ZNF444SIN3AASH2LHDAC2SUZ12POLR2ARBBP5IKZF1KDM4AMXI1CTCFMYCUSF1BHLHE40GABPAZEB1
CACNA1DGH03J053497-3:53500173:C:T0.1622Enhancer162-Distancechr3:53497702-53500205ENSR3_5GKQFQ
PKNOX1ZFXMAXFOXA2YY1FOXA1CTCFSP1RXRANR2F2HNF4GPKNOX1NR2F6SOX6NR2F1NR2C1RAD21HNF4ASMC3
CACNA1DGH03J053505-3:53507072:CA:C0.5483Enhancer205EliteDistancechr3:53505769-53507123-
POLR2ARAD21MAXRESTTAF1NR2F2GABPASP1ATF3FOXA2FOXA1EGR1HNF4AJUNDRXRAYY1ATF2
CACNA1DGH03J053517-3:53517875:A:G0.7734Enhancer290EliteC-HiC,Distancechr3:53517756-53520554ENSR3_BDLQW
NR3C1CEBPBNR3C1YY1HNF4ARAD21ATF3JUNDMAXEP300CEBPBRXRASP1TBPGATA3TCF12GABPASIN3ARESTZBTB33ESR1NR3C1FOSFOSL2CREB1ESRRAFOXA1TCF7L2BCL3ELF1ATF4CTCFNR3C1FOXA1CEBPBGATA2GATA3MBD2TBPJUNDRCOR1ESR1FOXA1
CACNA1DGH03J053524-3:53524096:G:A0.4239Enhancer36-C-HiC,Distancechr3:53524070-53525147--
CACNA1DGH03J053525-3:53525880:A:G1.1322Enhancer118EliteDistancechr3:53525638-53526319-
ATF2EP300POLR2AE2F1NR2F1
CACNA1DGH03J053534-3:53534242:A:C0.6216Enhancer50-Distancechr3:53534015-53534273-
EZH2GATA2RCOR1
CACNA1DGH03J053570-3:53570813:A:G0.6059Enhancer121-Distancechr3:53570245-53571766ENSR3_9R94S
JUNDESR1GATA3FOXA1ELK1MNTFOSSTAT3JUNCTBP1SMARCE1FOSL2MYCEP300DPF2CTCFMYCFOXA1
CACNA1DGH03J053613-3:53613785:T:C0.6992Enhancer82-Distancechr3:53613081-53613843ENSR3_83KK58
YY1IKZF1DPF2IKZF2ELF1SPI1EP300
CACNA1DGH03J053630-None0.0000Enhancer82-Distancechr3:53630133-53630263-
DPF2CUX1GATA3SMARCE1FOXA1ESR1
CACNA1DGH03J053631-None0.0000Enhancer111-Distancechr3:53630713-53630903ENSR3_9R9Q6
ZNF217CTBP1PKNOX1DPF2FOSSMARCE1FOXA1
CACNA1DGH03J053664-None0.0000Enhancer121-Distancechr3:53664913-53665063-
ZNF217GATA3GATA2DPF2SMARCE1NCOA3FOSJUNDMYCSMARCA5ZNF24ESR1CUX1PKNOX1FOXA1CTBP1MBD2
CACNA1DGH03J053673-None0.0000Enhancer1-Distancechr3:53673193-53673263-
EP300
CACNA1DGH03J053680-None0.0000Enhancer82-Distancechr3:53680153-53680303ENSR3_9RB9G
MXI1RFX1EP300RFX5RESTSMARCA4
CACNA1DGH03J053689-3:53689699:C:T0.0928Enhancer6-Distancechr3:53689641-53690009--
CACNA1DGH03J053707-None0.0000Enhancer1-Distancechr3:53707400-53707600-
EP300
CACNA1DGH03J053708-3:53708121:T:G0.3087Enhancer137-Distancechr3:53708000-53708200ENSR3_BDMR9
CTCFPOLR2AMAXRESTSP1ESR1TAF1TCF12NCOA3MYCNR2F2ZBTB33YY1FOXA1RXRAGABPAHNF4AJUNDATF3FOXA2RAD21EGR1
CACNA1DGH03J053710-3:53710300:C:G0.2045Enhancer226EliteDistancechr3:53710000-53710600ENSR3_BDMRK, ENSR3_5GM4L3, ENSR3_5GM4L8
CTCFPOLR2AMXI1RBM39TRIM22SMC3L3MBTL2HNRNPLLRB1RAD21GATAD2BYY1ZNF143MAXSIN3AEP300MYCRUNX3BHLHE40RXRASPI1CEBPBRESTBACH1
CACNA1DGH03J053725-3:53725694:A:G0.1685Enhancer61-Distancechr3:53725630-53725928-
MNTGATA3
CACNA1DGH03J053730-3:53730643:TC:T0.1740Enhancer99-Distancechr3:53730400-53731053ENSR3_9RBS4
USF2USF1
CACNA1DGH03J053732-None0.0000Enhancer36-Distancechr3:53732747-53733408-
IKZF1NFATC3GATAD2B
CACNA1DGH03J053743-3:53744594:G:A2.0774Enhancer71-Distancechr3:53743541-53745031ENSR3_83KMX6
CTCFPKNOX1TCF12RAD21MYC
CACNA1DGH03J053747-3:53748113:G:A0.3361Enhancer302EliteDistancechr3:53747974-53750825ENSR3_9RC2B, ENSR3_83KN2S
SMARCA5GATAD2BNFYBETS1NBNNANOGTCF12IKZF1ELF1MTA2NFICETV6SP1CUX1ARNTATF7SKILMEF2BMAXZNF687DPF2RAD51MXI1RELBIKZF2EP300STAT3BHLHE40EEDTBX21ATF2TBPMEF2ASPI1IRF4BACH1POLR2AFOSSTAT3CTCFZNF687IKZF1SPI1EBF1
CACNA1DGH03J053753-None0.0000Enhancer229EliteDistancechr3:53753408-53754554-
MAXZNF687PAX5ZNF316BACH1ELF1MTA2NFE2NFE2L2SPI1EP300SRFSPI1EP300CTCFRAD21
CACNA1DGH03J053759-3:53759444:G:A0.3958Enhancer1-Distancechr3:53759179-53759675-
PKNOX1
CACNA1DGH03J053762-3:53762779:T:A1.0578Enhancer36-Distancechr3:53762749-53764053-
CTCF
CACNA1DGH03J053764-3:53764307:C:G1.6000Enhancer36-Distancechr3:53764194-53765206-
CTCFPOLR2AEP300BHLHE40
CACNA1DGH03J053765-3:53766211:T:C0.7182Enhancer99-Distancechr3:53765822-53766882-
NRF1TRIM24PKNOX1CTBP1EP300ATF4ATF3CTCFRAD21
CACNA1DGH03J053767-3:53768268:T:C1.5308Enhancer36-Distancechr3:53767437-53768302-
EBF1HNF4A
CACNA1DGH03J053768-3:53769236:G:A0.3588Enhancer105-Distancechr3:53768834-53769881-
RELBFOXK2ATF7IKZF1MEF2BGATAD2BZNF687EBF1ELF1RESTEBF1
CACNA1DGH03J053772-3:53773673:CT:C2.1658Enhancer300EliteDistancechr3:53772612-53774410ENSR3_C7C3T
MLLT1MNTMEF2BZNF687EBF1SPI1IKZF1MXI1POLR2ABHLHE40FOSUSF1USF2MYCEP300CTCFATF2MTA3NFICRCOR1GATA3MAXDPF2TRIM22MTA2EEDRAD51IKZF1ZNF687MEF2BGATA2RUNX3ZNF263ETV6SMAD1ARNTIKZF2RELBSKILELF1NFXL1TBX21ATF7CREMJUNBGATAD2BEP300BHLHE40IRF4NBNNFATC3RB1POU2F2CTCFEBF1PAX5TCF12TBL1XR1CUX1PKNOX1SPI1TAF1FOXK2MLLT1BATFJUNDHNF4A
CACNA1DGH03J053775-None0.0000Enhancer121-Distancechr3:53775681-53776865-
YY1MYCSTAT3RXRAFOSFOXA2HNF4ASP1SP1EGR1HNF4AATF3RXRAMAFKMAFF
CACNA1DGH03J053776-3:53777279:G:A0.7649Enhancer71-Distancechr3:53776931-53777918-
SP1EGR1HNF4AATF3MAFFSPI1
CACNA1DGH03J053783-3:53784025:C:T1.5790Enhancer1-Distancechr3:53783791-53784812--
CACNA1DGH03J053794-None0.0000Enhancer71-Distancechr3:53794665-53795280ENSR3_83KP28
ATF2ATF7JUNDFOS
CACNA1DGH03J053795-3:53795377:C:T0.5886Enhancer1-Distancechr3:53795313-53795403-
FOS
CACNA1DGH03J053804-3:53806638:G:A1.1155Enhancer275EliteDistancechr3:53804144-53808023ENSR3_83KP7Q, ENSR3_BDNBJ, ENSR3_5GMP53
PKNOX1CTBP1FOSL2ESRRARFX1FOSJUNDBHLHE40ARNTPOU2F2ZNF263NFXL1PCBP1PCBP2ZNF444MAFKCTCFJUNDSIN3ARAD21POLR2AHNF1AIKZF1GATAD2BBHLHE40EBF1
CACNA1DGH03J053809-3:53810157:G:A1.2981Enhancer36-Distancechr3:53809845-53810689-
AGO2POLR2A
CACNA1DGH03J053825-3:53826070:C:T0.2805Enhancer13-eRNA_co-expressionchr3:53825929-53826175-
SRFJUNB