GWAS Annotated Elements: EFCAB5

Gene: EF-hand calcium binding domain 5

Significance Threshold: -log10(P) ≥ 6.0

GHID GWAS Hit Lead SNP -log10P Type Elite Association Location TFBSs
GH17J029095 - 17:29097298:G:A 0.2288 Enhancer - eQTLs chr17:29095222-29097518
ZNF263ESR1ESR1ZNF263POLR2GAGO2POLR2A
GH17J029497 - None 0.0000 Enhancer - eRNA_co-expression chr17:29497919-29497927 -
GH17J029586 - 17:29590309:G:A 2.9362 Promoter/Enhancer Elite eRNA_co-expression chr17:29586390-29594813
SPI1POLR2ATAF15CTCFASH2LSAP30SMC3SIN3ACTBP1DPF2TCF12MTA3MXI1TBPNRF1HNRNPLPOLR2ASTAT5AEP300HNRNPLLATF7FOSL2ZNF207RBM39SMARCE1ZNF687EGR1EZH2BHLHE40KDM4AZFXTAF15CREMZNF263MNTGATAD2BRUNX3UBTFMAXIKZF1E2F6RB1JUNDMYCPOLR2APHF8POLR2GTAF1RBFOX2UBTFMXI1CTCFYY1HNRNPLLIRF1SIN3ATAF15GATAD2BHNRNPKZBTB7ASP1MAXELF1ASH2LHNRNPLCTBP1PAX5TCF12BHLHE40MNTGABPAKDM4AFUSSRFATF7EP300NFXL1ETS1ZNF143ELK1NEUROD1SKILEGR1MEF2ARESTHDAC2CREB3L1ZNF207ZNF282FOXM1TRIM22KDM5BZNF592JUNDZFXSPI1RB1DPF2SMARCE1FOSBACH1PCBP1ZFP91RELBSTAT1E2F6FOSL2NFRKBL3MBTL2MTA1SREBF1POU2F2HDAC1PHF20RFX5STAT5ANR2F2NR2F1NR2C1TBPNR2F6RESTHDAC2ZNF592ETS1SP1NRF1TAF1ZBTB33ZNF687BHLHE40BCL3POLR2ARNF2NR3C1FOSL2BACH1MYCKDM1ATCF12PHF21AHNRNPKFOSHNRNPLLHDAC1ZNF263TFAP4HDAC2POLR2APOLR2GRNF2TAF15HNRNPLRBM39ZNF592DPF2RESTPHF8L3MBTL2EP400SIN3AMNTEP300YY1EGR1CREMMXI1MAXMGABHLHE40MYCU2AF1SAP30USF2USF1E2F6ASH2LSMARCA4KDM1AZNF687RBBP5TBPKDM4AZBTB33FOSNRF1AGO1ZNF639ZEB2JUNDZNF24MTA1JUNRCOR1TCF7L2FOSL2NCOA1NR3C1HCFC1SREBF2E4F1GABPAZHX1PKNOX1ELF1PCBP1GATAD2BIKZF1ATF7GMEB1RESTETS1XRCC5RAD21ZBTB7BMTA3HNRNPLLEEDSMARCA5NBNSMC3NFICTRIM24LEF1TAF15CC2D1AZNF282CBX3ZBTB2POU2F2ESRRATRIM22CBFA2T3IRF1KDM5BTCF12RB1SP1ZEB1SMARCB1RBFOX2CREMGATAD2AARID2SOX6ZHX2TBL1XR1HNRNPLIRF2RFX5JUNDEP300MYNNDACH1KLF16BHLHE40ZNF143E2F1ZBTB7ASRFCTBP1SAP30NEUROD1TBPUSF1SKIPOLR2GSMARCE1ZNF444IKZF2TFAP4RUNX3SKILE2F6ZNF217PRDM10HDAC2IKZF1CREMTFAP4TBPSPI1RAD21EZH2ETS1SP1RESTPCBP1NFICGMEB1MXI1SPI1HNRNPKEGR1ZEB1ELF1ZNF143AFF1ZNF217FIP1L1CREB3L1EP300SUZ12CREMTAF1NRF1ARID3AHCFC1YY1USF1MAXGABPB1ZNF263CTCFIKZF1TCF7L2GABPASIX5BACH1ZBTB40KDM4ASIN3BRBBP5CTBP1POLR2GRB1SMARCE1GATAD2BBHLHE40FOXM1DPF2E2F6MYCSUZ12XRCC5PHF8POLR2GEGR1SMARCE1ZFXTCF12ZNF263CREB3L1MXI1SIN3AMYCRESTSMAD5TAF15MAXPCBP1MNTIRF1SP1GMEB1EGR1ZBTB2NR2F1MIER1HDAC2CTCFARHGAP35HNRNPLLZNF444SAP30CC2D1ASMC3ZBTB7BNCOA1ETS1HDAC1EHMT2AFF1RAD21ZBTB40ZNF143RCOR1TBPRB1ARID2TAF7RFX5GABPAYY1ZBTB7ASPI1NCOA6MAXUSF1ATF3
GH17J029690 - 17:29690337:G:A 1.7024 Enhancer - eQTLs chr17:29690321-29691113
ZNF316HDAC3
GH17J029717 - 17:29717973:C:A 1.6562 Enhancer Elite eQTLs chr17:29717600-29718000 -
GH17J029744 - None 0.0000 Enhancer Elite eRNA_co-expression chr17:29743477-29743728 -
GH17J029764 - 17:29764935:T:C 0.7922 Enhancer - C-HiC chr17:29764237-29765428
PKNOX1EP300C11orf30ZNF316MAFKMAFFTAF1
GH17J029819 - None 0.0000 Enhancer - C-HiC chr17:29819222-29819352 -
GH17J029821 - 17:29822467:T:G 1.1769 Enhancer - C-HiC chr17:29821231-29822849
ATF7ATF2
GH17J029824 - 17:29826333:C:T 0.7768 Enhancer - C-HiC chr17:29824164-29826988
USF1ASH2LRESTNR2F2MAXSP1ZBTB33HNF4AFOXA1JUNDGABPANR2F6FOXA2EGR1YY1RXRATFAP4ATF3POLR2AELF1HNF4GEP300RFX1RAD51USF1MITF
GH17J029828 - None 0.0000 Enhancer - C-HiC chr17:29828548-29829570 -
GH17J029835 - 17:29837039:T:C 1.0825 Enhancer Elite C-HiC chr17:29835381-29837392
IKZF1POLR2AGATA3FOXA1SPI1CTCFFOSHDAC1SOX6PKNOX1KDM1AMAFKNR2F6NFE2L2MAFFESRRAHMBOX1C11orf30MEIS2NFE2NR2F1ATF3CEBPBZNF316ATF3TRIM24ATF4CEBPB
GH17J029839 - 17:29839189:C:T 0.2346 Enhancer - C-HiC chr17:29839042-29839192
RFX1BMI1RBM22
GH17J029844 - 17:29844425:A:G 0.3865 Enhancer - C-HiC chr17:29844308-29845124
TAF1CTCFTRIM28RFX1RAD21NFICSMARCA4NFIBZNF24PKNOX1
GH17J029848 - None 0.0000 Enhancer - C-HiC chr17:29848842-29848992
FOSBHLHE40MAFK
GH17J029849 - 17:29849563:G:A 1.1455 Enhancer Elite C-HiC chr17:29849171-29851014
NFICIKZF1TBX21NBNFOSIKZF2ZNF217SKILATF7GABPAJUNDRELBSMARCE1GATAD2BMTA2EEDFOSL2E2F8E2F1SPI1IRF4EP300CREMJUNBBATFATF2TCF12MAFKDPF2CEBPBATF3SRFSPI1ZBTB33
GH17J029871 - None 0.0000 Enhancer - C-HiC chr17:29871022-29871312 -
GH17J029918 - 17:29919689:C:CT 1.9916 Enhancer Elite Distance chr17:29918505-29920371
NFE2L2PKNOX1GATA2IKZF1JUNDFOSPKNOX1
GH17J029927 - 17:29930642:A:G 0.7733 Promoter/Enhancer Elite Distance chr17:29927604-29932095
CTCFNFICGATA2SOX6C11orf30HDAC1ATF2SIN3ACHD1TBPNFICPOLR2AYY1WRNIP1BHLHE40MYCZBED1MXI1KDM4AHDAC2LEF1ETV6BRD9RBBP5ARNTGMEB1SP1MTA3MCM7ZFXEHMT2KDM1ARESTZNF184SAP30ATF7PRDM10NR3C1EP400MAXMTA2SMARCC2TAF1E4F1YY1MEF2BHDAC1ARID1BTRIM24NFRKBELF1DPF2ELF4NRF1SMARCA5JUNBIKZF2SMARCA4RNF2NFXL1ZNF207KDM5BDNMT1XRCC5JUNDFOSATF4ZNF24EGR1ZBTB40TBX21POU2F2ARID2IKZF1IRF4ZNF316SMAD1UBTFZSCAN29ATF3GATAD2ABCORZBTB33MLLT1ASH2LBHLHE40PHF8NBNMYCBCL3SRFJUNSPI1SMARCE1SMC3EBF1PHF20GABPB1FOSL2RUNX3EEDRBFOX2RELBPHF21AEP300FOSL1CTCFIRF3ZNF639AGO2SIN3BBATFPOLR2GFOXM1TAF15ZBTB2HNRNPLLPAX8ESRRAPAX5GABPAIRF5PCBP1SMAD5RBM39PMLPCBP2BACH1CBX1ZNF143GATAD2BRESTTBPFUSHNRNPKL3MBTL2U2AF1CTBP1MNTPKNOX1TFAP4DACH1NFICMYCELF1ELK1ETV4EEDPHF20MEIS2HDAC2BHLHE40FOXA1RAD21MGACREMPRDM10TCF12PBX3HCFC1FOXM1SMARCA4E2F6SP1FOSL1GABPB1ZBTB7AGATAD2AJUNDCBFBZNF384EGR1RB1NR3C1IKZF1STAT5ACEBPBRESTZBTB33KDM5BYY1FOXA1NBNCEBPBTBPMAXSP1STAT3PKNOX1TBL1XR1FOXA2KDM5ANFATC1NFYBTRIM28EP300IRF3E2F4PMLMEF2BNFICSIN3AE2F1CHAMP1POLR2AMXI1RELBPAX5MYBL2MTA3MLLT1IKZF1MNTPRDM10ZFP91GATAD2BFOXM1WRNIP1XRCC5CUX1DPF2SKIZNF207SMC3RAD21CBFBIKZF2CC2D1AATF2HDAC1EEDPBX3TCF12POU2F2RXRAZKSCAN1ZBED1BHLHE40ARNTSKILEBF1ZNF143NFATC3BCL11ASMARCA5MTA2TRIM22DACH1SMARCA4RCOR1ETV6SIN3BRUNX3MYBATF7ELF1MEF2ATBX21MYCZNF384TAF1BACH1KLF16CREMZBTB7ARFX5RESTARID3AMAFKFOSL2TCF7IRF4HDAC2KDM1ARAD51FOXP1USF1FOXA1TFAP4FOXA2SIX5HNF4AZNF217PAX8MYBZNF592
GH17J029941 - None 0.0000 Promoter - Distance chr17:29941587-29941647
MAFK
GH17J029948 - 17:29948874:T:A 0.6781 Enhancer Elite Distance chr17:29948200-29949324
GABPASOX6ARID1BPKNOX1MYNNTEAD4SPI1MEIS2RUNX1
GH17J030005 - None 0.0000 Enhancer - C-HiC,Distance chr17:30005568-30006182
JUNSP1ZNF24DPF2GATA3ARID1BRNF2EHMT2TEAD4FOSSMARCA4ATF3JUNDCEBPBC11orf30ZNF316MAFFMEIS2MAFK
GH17J030021 - None 0.0000 Enhancer - Distance chr17:30021802-30021932
CTCFMXI1RNF2RAD21BACH1SMC3ARID3ATRIM22RESTFOXA2KLF16GATAD2BFOXA1ZNF143CREMJUND
GH17J030027 - 17:30028053:G:A 0.1260 Enhancer - C-HiC,Distance chr17:30027446-30028340 -
GH17J030040 - None 0.0000 Enhancer - Distance chr17:30040400-30041053
RESTIKZF1SRFSPI1
GH17J030089 - None 0.0000 Enhancer - Distance chr17:30089442-30089808 -
GH17J030091 - 17:30092241:A:G 0.4782 Enhancer - Distance chr17:30091878-30092353
REST
GH17J030093 - None 0.0000 Enhancer Elite Distance chr17:30093520-30094000
CTCFARNTRAD21IKZF1SMC3CC2D1ATRIM22ARID2TBX21XRCC5ARID3AYY1ZNF143WRNIP1NR2F6NR2C1RESTZNF384NR2F2RUNX3
GH17J030095 - 17:30095964:CA:C 2.0441 Enhancer Elite Distance chr17:30095474-30096452
RESTEP400IKZF1NFICNFRKBPRDM10ATF3ZNF592POLR2ACTCFARID1BYY1MAXSMARCA4ATF2JUNBTRIM24DPF2RNF2HDAC1RUNX3SMARCE1MEF2AEHMT2FOSL2ATF7JUNDFOSL1MEF2CJUNBATFZNF830EEDFOSHMBOX1SMC3C11orf30ZNF316RAD21MAFKNFE2ZNF143KDM1AZNF280A
GH17J030104 - 17:30104622:T:C 1.8188 Enhancer Elite Distance chr17:30104142-30105666
CTCFZNF830SIN3AHDAC3ZNF384ATF2YY1IKZF1MTA3RAD21XRCC5TAF9BTRIM22TBX21ZNF217NBNZNF263SP1RFX5ASH2LZNF143MXI1TRIM28RXRATAF1CC2D1ARESTGATA3CREMARID3ASMC3WRNIP1RB1JUNDMYBL2TBPUBTFRUNX3ETV4BHLHE40HNF4AARID2EEDPOLR2APHF8FOXM1NANOGL3MBTL2EP400TBL1XR1ZBTB11MAFKCCAR2ELF1ZHX1NCOA1MYCTBX3SPI1GATAD2BHNF4GNFATC3MNTGMEB1E4F1GATA1FOXK2HDAC2SMAD2RFX1HMBOX1NRF1ZBTB2SKIE2F1TRIM24TCF12ZBTB7AMTA1NFRKBHDAC1ATF7FOSL2KDM1ASMARCE1SKILBRD9NCOR1LEF1DACH1MEIS2EP300CREB3L1ZEB2GABPB1NEUROD1SMARCC2CBX3ETS1CBFA2T2JUNPKNOX1CEBPBDPF2NR2F1MAXNR2F6HES1MTA2TEAD4ZNF318NR2F2RAD51SOX6CTBP1GATA2ELF4PRDM10NR2C1MITFUSF1CBFA2T3ARID1BTAL1RBFOX2EHMT2ESRRAATF4ZMYM3BCORMITFZBTB5SMARCA5ATF3ZBTB40ZNF184ZNF24ZNF316C11orf30
GH17J030219 - 17:30219896:C:T 1.4199 Enhancer - eQTLs chr17:30219043-30220960
YY1ATF2IKZF1TCF7ZNF263IKZF2POU2F2BCL3RUNX3EEDSPI1NCOR1ATF3CBFA2T2EP300TEAD4JUNDTAL1CBFA2T3GATA1TCF12GMEB1MAXCTBP1ZNF316RXRAHNF4ANCOR1ZEB2JUNDSP1HDAC2KDM1ANR2F1E4F1NR2F2SMARCE1NR2F6TEAD4DPF2CEBPBARID1BETV4CBFA2T2EP300HNF4GTAL1CBFA2T3CREMTCF12ELF1IKZF1POLR2AEGR1
GH17J030343 - 17:30344496:A:AT 2.1188 Enhancer Elite eQTLs chr17:30343209-30347173
EP300CHD4CEBPBCTCFPOLR2GZFXPOLR2AYY1HNRNPLJUNDNR2F6EGR1TBX3NRF1KDM1AFOXK2FOXA1MNTEP300HDAC2SOX13MAXRXRAHNF4GFOXA2SP1RAD21CEBPBNCOR1ARID3AHNF4ARBFOX2ZNF384CREMFOXP1TAF1ELF1ASH2LRESTSMARCC2ELF4TCF7CUX1KAT2BHNF1ANBNSIN3AHDAC1ZNF592GATA3E2F1ZBTB33SPI1ZFP91E2F8EP400MAFKRNF2GMEB1MNTNR2F1TAF9BL3MBTL2NR2C1MTA1CTCFZNF318MTA3SKILTBPNR2F6E4F1PMLNR2F2HDAC3MAXMYNNARNTNFATC3SMARCE1HDAC2AFF1ESRRAZNF282TBX3LEF1RXRARFX5ZEB2KLF16HMBOX1ATF7DACH1GATA2RAD21SMAD1CTBP1ZBTB7AMTA2HES1FOXK2TFAP4TCF12TRIM24ETS1ARID1BXRCC5TEAD4GATA4CREMRCOR1FOSL2CBX3CBFA2T3ATF3TBL1XR1ATF4HNF4GLCORLCEBPBIKZF1SMC3SKITAL1DPF2EP300MEIS2JUNNFICSOX6ZNF384NR3C1SREBF1MYCETV4PKNOX1THRACBFA2T2ELF1EHMT2SOX13SMAD5ZMYM3POLR2APOLR2GCBX3XRCC5ZHX2ZEB2MAFFNRF1CUX1ATF7ARID1BEGR1TBPJUNBHDAC2SMARCE1JUNPOU2F2MEIS2CTBP1GATA4JUNDRUNX3FOSATF3IRF4BHLHE40DPF2FOSL2TRIM28BATFRXRACEBPBFOXA2NCOR1KDM1AHNF4ASP1NR2F6SKIEP300FOXA1