GWAS Annotated: COX17

Gene: cytochrome c oxidase copper chaperone COX17

GeneGHIDGWAS HitLead SNP-log10PTypeScoreEliteAssociation EvidenceLocationExternal LinksTFBSs
COX17GH03J118962-3:118964732:A:T1.9696Enhancer105-eQTLschr3:118962273-118974094-
MITFL3MBTL2IKZF1CHD7MEF2BSMARCA4EBF1PRDM10MXI1RCOR1EP300
COX17GH03J119320-3:119321114:T:C0.2847Enhancer259EliteeRNA_co-expressionchr3:119320759-119321200-
CC2D1ASP1MNTMYBL2MITF
COX17GH03J119321-3:119324164:C:G0.6941Promoter/Enhancer551EliteeRNA_co-expressionchr3:119321624-119324330ENSR3_BTND3, ENSR3_792FZS, ENSR3_CFSNL, ENSR3_5333R2J, ENSR3_5333R2S, ENSR3_5333R3L, ENSR3_5333R3S
MLLT1IKZF2STAT3FOSMXI1KDM4ARBFOX2POLR2AYY1EGR1RUNX3IRF4POLR2GBACH1RNF2SIN3ARBBP5ZNF207CTCFSMARCE1ZBTB33ETS1PHF8KDM1ATAF15SUZ12ZFXHDAC1ZNF639ZNF579RBM39ZBTB7ACLOCKEP300MGARAD21ZNF592NFRKBMXI1HNRNPKE2F1MNTMLLT1GATA3HNRNPLLMAXATF7RESTIKZF1CREB3L1RBM22SMAD5GABPB1MTA1ESRRAKDM5BTRIM28PMLHNRNPLSMARCA4L3MBTL2TAF1MYCTHAP1SP1ZNF217ASH2LNRF1EZH2TBPZNF687HCFC1YY1EGR1SKIRCOR1ARID1BSMAD1CBFBGMEB1FUSIKZF2CTBP1ELF1ARNTEEDTAF9BE2F6EP400BHLHE40JUNBCBX5DPF2TAF7SOX6SMARCA5UBTFJUNDRELBRUNX3SPI1ZBED1STAT1CREMGATAD2BMEF2BRXRANFICSTAT3TRIM22ETV6ZNF143RB1U2AF1NCOR1PHF21AMEF2AMEF2CFOSIRF4PHF20TBL1XR1JUNBCL11ASRFATF2FOSL2TCF12ARID3ABATFNBNNFATC3BACH1EBF1PAX5FOSL1NFE2MTA3MTA2TBX21NFATC1RLFZNF207ATF3MYBBCL3XRCC5CHD1HDAC2SMARCE1SREBF1ZNF507USF1YY1EEDEP300
COX17GH03J119348-3:119352506:G:A1.1977Enhancer400EliteeRNA_co-expressionchr3:119348481-119354572ENSR3_CFSQJ, ENSR3_CFSQQ
KDM4ARBBP5ASH2LCHD7TAF1SIN3ARESTJUNDEP300NANOGHDAC2POLR2ASP1BCL11ARAD21RXRACHD1TCF12MAXNR2F2RAD21TAF1TBPGATA2EP300SP1YY1EGR1NANOGCTCFTCF12ATF2CREB1ATF7ATF3ETS1JUNDJUNEBF1SMARCA4RAD51SMARCA5USF2MEF2BZBED1ATF3SKILDPF2MTA3NFICATF4EBF1MTA2NBNMLLT1STAT5ABHLHE40NFATC1ATF7IKZF1JUNBPAX5TRIM22EP300IRF4IKZF2BATFETV6TBL1XR1TCF7CREMRUNX3TBX21ZNF407GABPARELBZNF384SPI1RESTEEDMAFKCEBPBFOSSREBF1CTCFE2F1ATF4ATF7ATF3ATF2RESTJUNDCEBPBCREB1RAD21SMC3
COX17GH03J119425-None0.0000Enhancer17-eRNA_co-expressionchr3:119425728-119426147--
COX17GH03J119518-3:119518553:C:CA0.3322Enhancer16-eRNA_co-expressionchr3:119518508-119518999-
CTCF
COX17GH03J119554-3:119556778:A:G1.3814Enhancer349EliteeRNA_co-expressionchr3:119554951-119556982ENSR3_93QG8L
NFICSMAD5CTCFARID3AIKZF2EEDJUNBPOU2F2RUNX3POLR2AIRF4EBF1IKZF1BACH1EP300MAXBHLHE40MXI1ZNF687SPI1MNTSTAT5ASMAD5ZBED1CHD1DPF2WRNIP1ZKSCAN1
COX17GH03J119570-3:119571839:T:A0.7673Enhancer350EliteeRNA_co-expressionchr3:119570000-119571999ENSR3_93QGDX
NFICMTA2DPF2MEF2BRUNX3IKZF1POLR2AZNF143EBF1IRF4IKZF2ELF1SP1EP300PKNOX1SPI1MEIS2RELBEEDPAX8EP300TFAP4NR2F2
COX17GH03J119585-3:119585979:T:A0.7260Enhancer203EliteeRNA_co-expressionchr3:119585292-119586600-
MITFATF2JUNDATF3CREB1
COX17GH03J119592-3:119593093:A:G0.0224Enhancer86-eRNA_co-expressionchr3:119592988-119593156-
JUNBEBF1RUNX3
COX17GH03J119595-3:119596431:A:G0.6655Promoter/Enhancer477EliteeQTLs,eRNA_co-expressionchr3:119595327-119598332ENSR3_BTPSN, ENSR3_85HXDN, PLA1A_1
MLLT1IKZF1PKNOX1ATF3ATF7HNF4AZNF316JUNDPBX3TCF12C11orf30MAFKMAFFMEIS2ZNF687NFE2HSF1ELF1POLR2ABHLHE40SMC3ZNF687ZNF592SIX5YY1ELF1POLR2AIKZF2GATA2ZBED1WRNIP1MTA3YY1EP300SP1FOXA1RAD21RAD51EGR1FOXA2MAXNFATC1IKZF1RELBMXI1HNF4ATCF12RESTTAF1HNF1ASMAD5ELK1TBL1XR1GATAD2BSRFZNF207USF2DPF2TRIM22EBF1RXRAUSF1ZNF143MTA2STAT3TCF7BMI1EP300BATFJUNBTCF12MEF2ANBNMEF2BIKZF1GATAD2BJUNDRXRAATF7POU2F2
COX17GH03J119612-3:119616463:A:T0.7231Enhancer36-eQTLschr3:119612367-119617120-
MEF2ARUNX3RUNX3ZNF316
COX17GH03J119618-3:119620016:CA:C0.4876Enhancer56-eQTLschr3:119618765-119620444ENSR3_5335MS2
CTCFRESTRAD21POLR2AHMBOX1
COX17GH03J119620-3:119622181:AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG:A1.3864Enhancer1-eQTLschr3:119620557-119622234-
HMBOX1POLR2A
COX17GH03J119626-3:119629283:G:C0.6945Enhancer406EliteeQTLs,eRNA_co-expressionchr3:119626786-119631999ENSR3_93QH2H, ENSR3_5335P9Q, ENSR3_BTQ2N
ZNF592JUNBFOSIKZF2IKZF1KDM4AEBF1CTCFRELBZNF687DPF2BCL3PAX5SPI1BATFNBNPOLR2AEP300NFICGATAD2BTAF1EEDMTA3YY1TBPTAF1MTA3TBX21IKZF2SMARCA5ZBED1MTA2ZNF592GATAD2BZNF687EBF1PAX5BATFARID3ARUNX3EEDPOLR2ANFICTCF7IKZF1EP300TBPCREMTAF1PKNOX1RELBPBX3BCL3POU2F2TCF12MEF2BRAD21EBF1ATF2NR2F2ZFXZNF687SPI1RUNX3SMARCA5RCOR1RAD21CTCFC11orf30ZNF316FOSHNF4AMAFFATF3MAFKPOLR2ANFE2L3MBTL2JUNDATF4NFE2L2NFRKBCEBPBEP300
COX17GH03J119635-3:119640000:C:T0.6819Enhancer484EliteeQTLs,eRNA_co-expressionchr3:119635912-119640405ENSR3_93QH52, ENSR3_CFTJF, ENSR3_85HZ9X
POLR2ACTCFMYCGATA3RAD21GATA2EEDFOSZNF316MAFKC11orf30BACH1POLR2ASMARCA5RFX1ZNF592DPF2IKZF1TAF1ATF7PKNOX1EP300SIN3AFOSJUNDATF3SMARCE1CREMFOSL2ARNTZHX1ATF2YY1SOX6ZBED1STAT3JUNHDAC1NFE2SMARCA4RCOR1MAFFHDAC3NCOR1GATA3RNF2TBL1XR1NFICCBFA2T3MEIS2ZNF318ZNF384JUNBMEF2ABATFSMC3BRD4MXI1LEF1TEAD4GATA2ARID1BMEF2CESRRACBFBTBX21TAL1GATA1USF1EEDRESTSKILTRIM22IKZF2IRF1RAD21RUNX3EBF1CUX1HMBOX1BACH1KLF5BHLHE40MLLT1PAX5MTA3NFATC1POLR2GRBFOX2SIN3AHCFC1POLR2AGATAD2BHDAC6SMARCA5ZNF207ZNF143TRIM28ATF7RELBMLLT1NFRKBRNF2ZBTB33RB1SMAD5EP400L3MBTL2ZNF687ATF3SMAD1CBFBZSCAN29RAD51NRF1DPF2HMBOX1CTBP1NFICATF4PKNOX1NFATC3SMARCE1E4F1NBNHDAC2ARNTCTCFSKILTHRAFOXK2SP1MTA2HDAC3RESTTAF1AFF1NR2F1NCOA1MITFGATA3IKZF1YY1BRD9ESRRANCOR1MNTBMI1CREB1BHLHE40BACH1ZNF507ZEB2ETS1FOSSMARCA4NEUROD1CBFA2T2POU2F2EBF1MGATBPEP300RAD21MTA1ETV6CREMARID1BTEAD4C11orf30JUNDRUNX3IKZF2HDAC1ZNF592ATF2ZNF318TBL1XR1TBX21ZNF24CEBPBUSF1GATA2MYCCHD1EEDMEF2BNFE2JUNMXI1TCF12ELF1SOX6RCOR1MAXHES1TRIM24ZNF316MEIS2ARID3ABCL3USF2CUX1STAT3LEF1PAX5GATA1JUNBIRF4E2F1MAFKSTAT5ANFATC1MAFFSRFPBX3MEF2CZBED1SPI1BATFTRIM22BCL11AMEF2ANFATC1YY1JUNBETV6FOSBMI1BCL3JUNDCREMIRF4BCL11AMEF2CSRFBATFPBX3ESRRAGATA2ARID3ARUNX3GATA3FOXM1MXI1YY1RCOR1
COX17GH03J119642-3:119644070:T:TA0.5887Enhancer264EliteeQTLschr3:119642551-119644797ENSR3_BTQ4J
NRF1JUNBEEDZEB2MNTCTBP1POLR2ARNF2MYCMGAZNF687L3MBTL2MAXUSF1MITFCTCFJUNDFOSL2FOSRAD21CEBPB
COX17GH03J119654-3:119653317:A:G0.4239Enhancer1-eQTLschr3:119653179-119653499--
COX17GH03J119653-3:119654230:A:G0.4923Enhancer1-eQTLs,Distancechr3:119653654-119655195-
SPI1
COX17GH03J119655-3:119655975:A:T0.0353Enhancer1-Distancechr3:119655441-119656140-
USF1
COX17GH03J119656-3:119657831:T:C0.6566Enhancer105-eQTLs,Distancechr3:119656193-119658738ENSR3_5335WKH
TAF1MXI1ZFP91DPF2ZNF316C11orf30ZNF384NFE2CTCFRAD21SPI1
COX17GH03J119659-3:119660130:G:A0.9992Promoter/Enhancer415EliteDistancechr3:119659127-119663853ENSR3_93QHD4, ENSR3_BTQ7C, ENSR3_5335XBB, ENSR3_93QHF2, POPDC2_1
POLR2APOLR2AMXI1TAF1SIN3AIKZF1YY1RESTEP300RAD21RCOR1GATA2CTCFIKZF1RAD21ATF7JUNBCREMPOLR2ARESTTCF12SIN3ATAF1JUNDRAD21RCOR1ZMYM3RBM25
COX17GH03J119664-3:119664460:GAAGA:G0.5544Enhancer282EliteDistancechr3:119663999-119665800ENSR3_93QHF2, ENSR3_93QHF6, ENSR3_93QHFC
JUNDEP300YY1RAD51NFICSKILZNF687EEDRUNX3MXI1TBX21IKZF1TRIM22MEF2ASTAT5AMEF2BEP300RELBIKZF2SPI1POU2F2L3MBTL2HDAC1CTBP1E2F1ZBTB40MLLT1ZEB2HMBOX1POLR2AATF7NFATC1RESTTEAD4EP300JUNDCREMZMIZ1GABPB1
COX17GH03J119667-None0.0000Enhancer71-Distancechr3:119667143-119667665-
IKZF1MTA2CUX1ZBED1BHLHE40SPI1CTCF
COX17GH03J119668-None0.0000Enhancer36-Distancechr3:119668463-119669024-
RBM39DACH1
COX17GH03J119669-3:119670621:C:T0.3160Enhancer36-Distancechr3:119669902-119670706-
MAFKNR2F2SP1
COX17GH03J119672-3:119673254:C:T0.6287Enhancer36-eQTLs,Distancechr3:119672695-119675085-
IKZF1POLR2ARBFOX2
COX17GH03J119675-3:119678127:C:A0.4975Promoter/Enhancer627EliteeQTLs,Distancechr3:119675593-119678214ENSR3_53362QJ, ENSR3_BTQ9G, POPDC2_2, COX17_1
GATA3MXI1MGAPOLR2AUSF1SMC3MEIS2EP300CTCFPAX8BACH1ASH2LSMAD5POLR2ARFX1FOXA2FOXA1NR2C1KDM5ARBM39DPF2KDM4BHNRNPLLKDM4AGMEB1EHMT2ZFXPRPF4ZNF830KDM1AHNRNPLRBFOX2ZNF687CTBP1MNTTBL1XR1SREBF1MBD2CBX3ETV4TAF1EP400NR2C2MYCXRCC5SIN3AGABPB1POLR2GNCOR1ESRRACREMZNF444YY1MAXNR2F2HCFC1MTA2MGAHNF4GZBTB40EP300TRIM24PHF8ZNF592NR2F6GABPANRF1NR2F1HDAC2HNF4AGATAD2BATF7CREB3L1ETS1NBNMTA3CTCFC11orf30PCBP1PHF20HNRNPKRBBP5E4F1EEDRB1UBTFCBX1MXI1SIN3BRCOR1TRIM22HDAC1RBM34KAT8RELBRESTL3MBTL2SMAD5ATF3ZNF207E2F7GATA3SP1ELF1TCF12LCORLE2F8NR3C1ELF4ETV6SREBF2CREB1NFIBZHX2NFYBZNF217PKNOX1ELK1ZNF639KLF5MYBL2WRNIP1FOXM1EGR1RAD21E2F1FOXK2RNF2IKZF1E2F4ZEB1JUNDRFX1TBPE2F6TEAD4ZBTB33MEIS2PBX3STAT1ZEB2NFRKBIRF3ZBTB2SRFCC2D1APCBP1CUX1NFICFOXA1TFAP4FOXA2HNF4GZNF574ZNF143ZBED1TBX21SMAD1MLLT1RUNX3RXRAJUNBPOU2F2IKZF2CHAMP1CEBPBARID3ABATFPAX8ZNF592
COX17GH03J119679-3:119679839:A:AAACT0.5025Enhancer111-Distancechr3:119679506-119680351-
ARID1BDPF2GATA3CTBP1NBNIKZF1HMBOX1SOX6RESTMYCGATA2RCOR1GATA1JUNDHDAC1RAD21
COX17GH03J119742-None0.0000Enhancer48-eRNA_co-expressionchr3:119742321-119742488-
CEBPB
COX17GH03J120143-3:120146433:CCT:C0.9108Enhancer405EliteeRNA_co-expressionchr3:120143819-120149742ENSR3_93QNK2, ENSR3_5338ZW4, ENSR3_BTSR7, ENSR3_CFWW8, ENSR3_53392DG
CTCFSMC3RAD21PKNOX1SP1CTBP1MLLT1ZNF579ESR1MITFUSF1SP1ZNF217STAT3ZNF579ZNF24CTBP1JUNDPKNOX1CEBPBFOSMYCCREB1NFE2L2DPF2SMARCE1GATA3MAFKFOSL2BATFMAFFPOLR2ACTCFXRCC5RUNX3SMC3RAD21SIN3AZNF444NFIBGATA3ZNF579ZHX2GATAD2BETV4RCOR1ZNF217ZNF24MNTSMARCE1CTBP1CLOCKPKNOX1DPF2NEUROD1TCF7JUNDEP300SP1NR3C1ESR1ELF1FOXA1FOXA2BHLHE40ZNF274RUNX3