GWAS Annotated: EFCAB5

Gene: EF-hand calcium binding domain 5

GeneGHIDGWAS HitLead SNP-log10PTypeScoreEliteAssociation EvidenceLocationExternal LinksTFBSs
EFCAB5GH17J029095-17:29097298:G:A0.2288Enhancer36-eQTLschr17:29095222-29097518-
ZNF263ESR1ESR1ZNF263POLR2GAGO2POLR2A
EFCAB5GH17J029497-None0.0000Enhancer9-eRNA_co-expressionchr17:29497919-29497927--
EFCAB5GH17J029586-17:29590309:G:A2.9362Promoter/Enhancer727EliteeRNA_co-expressionchr17:29586390-29594813ENSR17_C4X9D, ENSR17_58XWKH, ENSR17_B7TJX, ENSR17_58XWNG, ENSR17_58XWNL, ENSR17_58XWWJ, ENSR17_C4X9L, ENSR17_58XX36, ENSR17_C4X9N, ENSR17_58XX6H, ENSR17_58XXBB, ENSR17_C4X9R, ENSR17_58XXGS, GIT1_1, ANKRD13B_1
SPI1POLR2ATAF15CTCFASH2LSAP30SMC3SIN3ACTBP1DPF2TCF12MTA3MXI1TBPNRF1HNRNPLPOLR2ASTAT5AEP300HNRNPLLATF7FOSL2ZNF207RBM39SMARCE1ZNF687EGR1EZH2BHLHE40KDM4AZFXTAF15CREMZNF263MNTGATAD2BRUNX3UBTFMAXIKZF1E2F6RB1JUNDMYCPOLR2APHF8POLR2GTAF1RBFOX2UBTFMXI1CTCFYY1HNRNPLLIRF1SIN3ATAF15GATAD2BHNRNPKZBTB7ASP1MAXELF1ASH2LHNRNPLCTBP1PAX5TCF12BHLHE40MNTGABPAKDM4AFUSSRFATF7EP300NFXL1ETS1ZNF143ELK1NEUROD1SKILEGR1MEF2ARESTHDAC2CREB3L1ZNF207ZNF282FOXM1TRIM22KDM5BZNF592JUNDZFXSPI1RB1DPF2SMARCE1FOSBACH1PCBP1ZFP91RELBSTAT1E2F6FOSL2NFRKBL3MBTL2MTA1SREBF1POU2F2HDAC1PHF20RFX5STAT5ANR2F2NR2F1NR2C1TBPNR2F6RESTHDAC2ZNF592ETS1SP1NRF1TAF1ZBTB33ZNF687BHLHE40BCL3POLR2ARNF2NR3C1FOSL2BACH1MYCKDM1ATCF12PHF21AHNRNPKFOSHNRNPLLHDAC1ZNF263TFAP4HDAC2POLR2APOLR2GRNF2TAF15HNRNPLRBM39ZNF592DPF2RESTPHF8L3MBTL2EP400SIN3AMNTEP300YY1EGR1CREMMXI1MAXMGABHLHE40MYCU2AF1SAP30USF2USF1E2F6ASH2LSMARCA4KDM1AZNF687RBBP5TBPKDM4AZBTB33FOSNRF1AGO1ZNF639ZEB2JUNDZNF24MTA1JUNRCOR1TCF7L2FOSL2NCOA1NR3C1HCFC1SREBF2E4F1GABPAZHX1PKNOX1ELF1PCBP1GATAD2BIKZF1ATF7GMEB1RESTETS1XRCC5RAD21ZBTB7BMTA3HNRNPLLEEDSMARCA5NBNSMC3NFICTRIM24LEF1TAF15CC2D1AZNF282CBX3ZBTB2POU2F2ESRRATRIM22CBFA2T3IRF1KDM5BTCF12RB1SP1ZEB1SMARCB1RBFOX2CREMGATAD2AARID2SOX6ZHX2TBL1XR1HNRNPLIRF2RFX5JUNDEP300MYNNDACH1KLF16BHLHE40ZNF143E2F1ZBTB7ASRFCTBP1SAP30NEUROD1TBPUSF1SKIPOLR2GSMARCE1ZNF444IKZF2TFAP4RUNX3SKILE2F6ZNF217PRDM10HDAC2IKZF1CREMTFAP4TBPSPI1RAD21EZH2ETS1SP1RESTPCBP1NFICGMEB1MXI1SPI1HNRNPKEGR1ZEB1ELF1ZNF143AFF1ZNF217FIP1L1CREB3L1EP300SUZ12CREMTAF1NRF1ARID3AHCFC1YY1USF1MAXGABPB1ZNF263CTCFIKZF1TCF7L2GABPASIX5BACH1ZBTB40KDM4ASIN3BRBBP5CTBP1POLR2GRB1SMARCE1GATAD2BBHLHE40FOXM1DPF2E2F6MYCSUZ12XRCC5PHF8POLR2GEGR1SMARCE1ZFXTCF12ZNF263CREB3L1MXI1SIN3AMYCRESTSMAD5TAF15MAXPCBP1MNTIRF1SP1GMEB1EGR1ZBTB2NR2F1MIER1HDAC2CTCFARHGAP35HNRNPLLZNF444SAP30CC2D1ASMC3ZBTB7BNCOA1ETS1HDAC1EHMT2AFF1RAD21ZBTB40ZNF143RCOR1TBPRB1ARID2TAF7RFX5GABPAYY1ZBTB7ASPI1NCOA6MAXUSF1ATF3
EFCAB5GH17J029690-17:29690337:G:A1.7024Enhancer36-eQTLschr17:29690321-29691113-
ZNF316HDAC3
EFCAB5GH17J029717-17:29717973:C:A1.6562Enhancer98EliteeQTLschr17:29717600-29718000--
EFCAB5GH17J029744-None0.0000Enhancer143EliteeRNA_co-expressionchr17:29743477-29743728--
EFCAB5GH17J029764-17:29764935:T:C0.7922Enhancer105-C-HiCchr17:29764237-29765428-
PKNOX1EP300C11orf30ZNF316MAFKMAFFTAF1
EFCAB5GH17J029819-None0.0000Enhancer1-C-HiCchr17:29819222-29819352--
EFCAB5GH17J029821-17:29822467:T:G1.1769Enhancer56-C-HiCchr17:29821231-29822849-
ATF7ATF2
EFCAB5GH17J029824-17:29826333:C:T0.7768Enhancer166-C-HiCchr17:29824164-29826988-
USF1ASH2LRESTNR2F2MAXSP1ZBTB33HNF4AFOXA1JUNDGABPANR2F6FOXA2EGR1YY1RXRATFAP4ATF3POLR2AELF1HNF4GEP300RFX1RAD51USF1MITF
EFCAB5GH17J029828-None0.0000Enhancer56-C-HiCchr17:29828548-29829570--
EFCAB5GH17J029835-17:29837039:T:C1.0825Enhancer210EliteC-HiCchr17:29835381-29837392ENSR17_8TNGZ, ENSR17_8TNH9, ENSR17_9FSQB
IKZF1POLR2AGATA3FOXA1SPI1CTCFFOSHDAC1SOX6PKNOX1KDM1AMAFKNR2F6NFE2L2MAFFESRRAHMBOX1C11orf30MEIS2NFE2NR2F1ATF3CEBPBZNF316ATF3TRIM24ATF4CEBPB
EFCAB5GH17J029839-17:29839189:C:T0.2346Enhancer111-C-HiCchr17:29839042-29839192ENSR17_8TNK2
RFX1BMI1RBM22
EFCAB5GH17J029844-17:29844425:A:G0.3865Enhancer146-C-HiCchr17:29844308-29845124ENSR17_B7WWS, ENSR17_592JF2
TAF1CTCFTRIM28RFX1RAD21NFICSMARCA4NFIBZNF24PKNOX1
EFCAB5GH17J029848-None0.0000Enhancer36-C-HiCchr17:29848842-29848992-
FOSBHLHE40MAFK
EFCAB5GH17J029849-17:29849563:G:A1.1455Enhancer228EliteC-HiCchr17:29849171-29851014ENSR17_B7WXL
NFICIKZF1TBX21NBNFOSIKZF2ZNF217SKILATF7GABPAJUNDRELBSMARCE1GATAD2BMTA2EEDFOSL2E2F8E2F1SPI1IRF4EP300CREMJUNBBATFATF2TCF12MAFKDPF2CEBPBATF3SRFSPI1ZBTB33
EFCAB5GH17J029871-None0.0000Enhancer36-C-HiCchr17:29871022-29871312ENSR17_9FT59-
EFCAB5GH17J029918-17:29919689:C:CT1.9916Enhancer188EliteDistancechr17:29918505-29920371ENSR17_B7XBL
NFE2L2PKNOX1GATA2IKZF1JUNDFOSPKNOX1
EFCAB5GH17J029927-17:29930642:A:G0.7733Promoter/Enhancer664EliteDistancechr17:29927604-29932095ENSR17_9FTQ7, ENSR17_B7XD7, ENSR17_59343Z, ENSR17_59349X, ENSR17_8TQJN, EFCAB5_1, SSH2_1
CTCFNFICGATA2SOX6C11orf30HDAC1ATF2SIN3ACHD1TBPNFICPOLR2AYY1WRNIP1BHLHE40MYCZBED1MXI1KDM4AHDAC2LEF1ETV6BRD9RBBP5ARNTGMEB1SP1MTA3MCM7ZFXEHMT2KDM1ARESTZNF184SAP30ATF7PRDM10NR3C1EP400MAXMTA2SMARCC2TAF1E4F1YY1MEF2BHDAC1ARID1BTRIM24NFRKBELF1DPF2ELF4NRF1SMARCA5JUNBIKZF2SMARCA4RNF2NFXL1ZNF207KDM5BDNMT1XRCC5JUNDFOSATF4ZNF24EGR1ZBTB40TBX21POU2F2ARID2IKZF1IRF4ZNF316SMAD1UBTFZSCAN29ATF3GATAD2ABCORZBTB33MLLT1ASH2LBHLHE40PHF8NBNMYCBCL3SRFJUNSPI1SMARCE1SMC3EBF1PHF20GABPB1FOSL2RUNX3EEDRBFOX2RELBPHF21AEP300FOSL1CTCFIRF3ZNF639AGO2SIN3BBATFPOLR2GFOXM1TAF15ZBTB2HNRNPLLPAX8ESRRAPAX5GABPAIRF5PCBP1SMAD5RBM39PMLPCBP2BACH1CBX1ZNF143GATAD2BRESTTBPFUSHNRNPKL3MBTL2U2AF1CTBP1MNTPKNOX1TFAP4DACH1NFICMYCELF1ELK1ETV4EEDPHF20MEIS2HDAC2BHLHE40FOXA1RAD21MGACREMPRDM10TCF12PBX3HCFC1FOXM1SMARCA4E2F6SP1FOSL1GABPB1ZBTB7AGATAD2AJUNDCBFBZNF384EGR1RB1NR3C1IKZF1STAT5ACEBPBRESTZBTB33KDM5BYY1FOXA1NBNCEBPBTBPMAXSP1STAT3PKNOX1TBL1XR1FOXA2KDM5ANFATC1NFYBTRIM28EP300IRF3E2F4PMLMEF2BNFICSIN3AE2F1CHAMP1POLR2AMXI1RELBPAX5MYBL2MTA3MLLT1IKZF1MNTPRDM10ZFP91GATAD2BFOXM1WRNIP1XRCC5CUX1DPF2SKIZNF207SMC3RAD21CBFBIKZF2CC2D1AATF2HDAC1EEDPBX3TCF12POU2F2RXRAZKSCAN1ZBED1BHLHE40ARNTSKILEBF1ZNF143NFATC3BCL11ASMARCA5MTA2TRIM22DACH1SMARCA4RCOR1ETV6SIN3BRUNX3MYBATF7ELF1MEF2ATBX21MYCZNF384TAF1BACH1KLF16CREMZBTB7ARFX5RESTARID3AMAFKFOSL2TCF7IRF4HDAC2KDM1ARAD51FOXP1USF1FOXA1TFAP4FOXA2SIX5HNF4AZNF217PAX8MYBZNF592
EFCAB5GH17J029941-None0.0000Promoter149-Distancechr17:29941587-29941647EFCAB5_2
MAFK
EFCAB5GH17J029948-17:29948874:T:A0.6781Enhancer144EliteDistancechr17:29948200-29949324-
GABPASOX6ARID1BPKNOX1MYNNTEAD4SPI1MEIS2RUNX1
EFCAB5GH17J030005-None0.0000Enhancer162-C-HiC,Distancechr17:30005568-30006182ENSR17_9FWK9
JUNSP1ZNF24DPF2GATA3ARID1BRNF2EHMT2TEAD4FOSSMARCA4ATF3JUNDCEBPBC11orf30ZNF316MAFFMEIS2MAFK
EFCAB5GH17J030021-None0.0000Enhancer130-Distancechr17:30021802-30021932ENSR17_9FWPT, ENSR17_593MR9
CTCFMXI1RNF2RAD21BACH1SMC3ARID3ATRIM22RESTFOXA2KLF16GATAD2BFOXA1ZNF143CREMJUND
EFCAB5GH17J030027-17:30028053:G:A0.1260Enhancer1-C-HiC,Distancechr17:30027446-30028340--
EFCAB5GH17J030040-None0.0000Enhancer111-Distancechr17:30040400-30041053-
RESTIKZF1SRFSPI1
EFCAB5GH17J030089-None0.0000Enhancer6-Distancechr17:30089442-30089808--
EFCAB5GH17J030091-17:30092241:A:G0.4782Enhancer56-Distancechr17:30091878-30092353-
REST
EFCAB5GH17J030093-None0.0000Enhancer218EliteDistancechr17:30093520-30094000ENSR17_B7Z8S, ENSR17_59454M
CTCFARNTRAD21IKZF1SMC3CC2D1ATRIM22ARID2TBX21XRCC5ARID3AYY1ZNF143WRNIP1NR2F6NR2C1RESTZNF384NR2F2RUNX3
EFCAB5GH17J030095-17:30095964:CA:C2.0441Enhancer258EliteDistancechr17:30095474-30096452ENSR17_B7Z95
RESTEP400IKZF1NFICNFRKBPRDM10ATF3ZNF592POLR2ACTCFARID1BYY1MAXSMARCA4ATF2JUNBTRIM24DPF2RNF2HDAC1RUNX3SMARCE1MEF2AEHMT2FOSL2ATF7JUNDFOSL1MEF2CJUNBATFZNF830EEDFOSHMBOX1SMC3C11orf30ZNF316RAD21MAFKNFE2ZNF143KDM1AZNF280A
EFCAB5GH17J030104-17:30104622:T:C1.8188Enhancer317EliteDistancechr17:30104142-30105666ENSR17_B7ZBG, ENSR17_5946ZH, ENSR17_594753
CTCFZNF830SIN3AHDAC3ZNF384ATF2YY1IKZF1MTA3RAD21XRCC5TAF9BTRIM22TBX21ZNF217NBNZNF263SP1RFX5ASH2LZNF143MXI1TRIM28RXRATAF1CC2D1ARESTGATA3CREMARID3ASMC3WRNIP1RB1JUNDMYBL2TBPUBTFRUNX3ETV4BHLHE40HNF4AARID2EEDPOLR2APHF8FOXM1NANOGL3MBTL2EP400TBL1XR1ZBTB11MAFKCCAR2ELF1ZHX1NCOA1MYCTBX3SPI1GATAD2BHNF4GNFATC3MNTGMEB1E4F1GATA1FOXK2HDAC2SMAD2RFX1HMBOX1NRF1ZBTB2SKIE2F1TRIM24TCF12ZBTB7AMTA1NFRKBHDAC1ATF7FOSL2KDM1ASMARCE1SKILBRD9NCOR1LEF1DACH1MEIS2EP300CREB3L1ZEB2GABPB1NEUROD1SMARCC2CBX3ETS1CBFA2T2JUNPKNOX1CEBPBDPF2NR2F1MAXNR2F6HES1MTA2TEAD4ZNF318NR2F2RAD51SOX6CTBP1GATA2ELF4PRDM10NR2C1MITFUSF1CBFA2T3ARID1BTAL1RBFOX2EHMT2ESRRAATF4ZMYM3BCORMITFZBTB5SMARCA5ATF3ZBTB40ZNF184ZNF24ZNF316C11orf30
EFCAB5GH17J030219-17:30219896:C:T1.4199Enhancer191-eQTLschr17:30219043-30220960-
YY1ATF2IKZF1TCF7ZNF263IKZF2POU2F2BCL3RUNX3EEDSPI1NCOR1ATF3CBFA2T2EP300TEAD4JUNDTAL1CBFA2T3GATA1TCF12GMEB1MAXCTBP1ZNF316RXRAHNF4ANCOR1ZEB2JUNDSP1HDAC2KDM1ANR2F1E4F1NR2F2SMARCE1NR2F6TEAD4DPF2CEBPBARID1BETV4CBFA2T2EP300HNF4GTAL1CBFA2T3CREMTCF12ELF1IKZF1POLR2AEGR1
EFCAB5GH17J030343-17:30344496:A:AT2.1188Enhancer475EliteeQTLschr17:30343209-30347173ENSR17_C52B4, ENSR17_9G37L
EP300CHD4CEBPBCTCFPOLR2GZFXPOLR2AYY1HNRNPLJUNDNR2F6EGR1TBX3NRF1KDM1AFOXK2FOXA1MNTEP300HDAC2SOX13MAXRXRAHNF4GFOXA2SP1RAD21CEBPBNCOR1ARID3AHNF4ARBFOX2ZNF384CREMFOXP1TAF1ELF1ASH2LRESTSMARCC2ELF4TCF7CUX1KAT2BHNF1ANBNSIN3AHDAC1ZNF592GATA3E2F1ZBTB33SPI1ZFP91E2F8EP400MAFKRNF2GMEB1MNTNR2F1TAF9BL3MBTL2NR2C1MTA1CTCFZNF318MTA3SKILTBPNR2F6E4F1PMLNR2F2HDAC3MAXMYNNARNTNFATC3SMARCE1HDAC2AFF1ESRRAZNF282TBX3LEF1RXRARFX5ZEB2KLF16HMBOX1ATF7DACH1GATA2RAD21SMAD1CTBP1ZBTB7AMTA2HES1FOXK2TFAP4TCF12TRIM24ETS1ARID1BXRCC5TEAD4GATA4CREMRCOR1FOSL2CBX3CBFA2T3ATF3TBL1XR1ATF4HNF4GLCORLCEBPBIKZF1SMC3SKITAL1DPF2EP300MEIS2JUNNFICSOX6ZNF384NR3C1SREBF1MYCETV4PKNOX1THRACBFA2T2ELF1EHMT2SOX13SMAD5ZMYM3POLR2APOLR2GCBX3XRCC5ZHX2ZEB2MAFFNRF1CUX1ATF7ARID1BEGR1TBPJUNBHDAC2SMARCE1JUNPOU2F2MEIS2CTBP1GATA4JUNDRUNX3FOSATF3IRF4BHLHE40DPF2FOSL2TRIM28BATFRXRACEBPBFOXA2NCOR1KDM1AHNF4ASP1NR2F6SKIEP300FOXA1