GWAS Annotated: MMAB

Gene: metabolism of cobalamin associated B

GeneGHIDGWAS HitLead SNP-log10PTypeScoreEliteAssociation EvidenceLocationExternal LinksTFBSs
MMABGH12J109432-12:109433374:A:G1.6608Enhancer280EliteC-HiCchr12:109432700-109433399ENSR12_5XPZ82
FOSCTCFATF7CREB1ATF2JUNDATF3TCF12TAF1XRCC5USF2SMC3TRIM22ZNF143RESTZNF444TFAP4CUX1MAXRUNX3ARID3AMYCYY1ZNF384RAD21GATA3RB1JUNDELF1
MMABGH12J109497-12:109498251:T:C0.7157Enhancer56-C-HiCchr12:109497377-109498726-
ATF3FOSCTCFJUNDCEBPBCTCFRAD21
MMABGH12J109501-12:109505104:C:T1.1898Enhancer111-C-HiCchr12:109501952-109505407-
SMARCA4NFICNFIB
MMABGH12J109511-12:109512339:A:G1.8064Enhancer71-C-HiCchr12:109511717-109514366-
CTCFSMARCA4CTCFFOSJUNDFOSL2
MMABGH12J109517-12:109519888:T:TAAGATTC1.8324Enhancer261EliteC-HiCchr12:109517567-109520487ENSR12_857XCC, ENSR12_BRPSR, ENSR12_5XQHZ5
CTCFBHLHE40SMARCA4CTCFSMC3RAD21KDM1AXRCC5TRIM22KLF16RESTRCOR1SIN3AZNF143RB1EBF1YY1FOSEP300MAFKNFE2L2STAT3GATA2
MMABGH12J109521-12:109523157:T:C1.8333Enhancer56-eQTLs,C-HiCchr12:109521678-109524437ENSR12_857XGH
YY1MXI1RCOR1GATA2CTCFRAD21
MMABGH12J109524-12:109524990:G:C1.8420Enhancer63EliteC-HiCchr12:109524899-109525591--
MMABGH12J109526-12:109527707:C:G1.8220Enhancer56-eQTLs,C-HiCchr12:109526727-109528860-
HNF4ACTCFRAD21
MMABGH12J109540-12:109543379:C:CG1.8827Enhancer188EliteeQTLs,C-HiCchr12:109540678-109543656ENSR12_5XQMTP, ENSR12_93LGX8
XRCC5SKIRCOR1CTCFRAD21MAXFOSZMIZ1MLLT1KDM1A
MMABGH12J109544-12:109545057:CCTCA:C1.2301Enhancer118EliteeQTLs,C-HiCchr12:109544806-109545670ENSR12_BRPZK
POLR2AHNRNPLMXI1MYC
MMABGH12J109553-12:109553245:A:G1.9114Enhancer99-eQTLs,Distancechr12:109553002-109555118-
TBX3FOXA1FOXA2TFAP4POLR2AHNF4ACTCFPOLR2AAGO1POLR2GEZH2POLR2GFOSL2
MMABGH12J109558-12:109558538:C:A1.9674Enhancer56-eQTLs,Distancechr12:109558226-109559211-
POLR2AAGO2POLR2GRBFOX2HNRNPLHNF4AMITF
MMABGH12J109559-12:109560292:A:G1.9282Enhancer1-eQTLs,Distancechr12:109559986-109561780-
RBFOX2POLR2GPOLR2GPOLR2AHNRNPH1HNRNPKAGO1POLR2AAGO2POLR2G
MMABGH12J109571-12:109573061:A:G1.6861Promoter/Enhancer594EliteDistancechr12:109571575-109574771ENSR12_93LH96, ENSR12_5XQT9J, ENSR12_93LH9C, ENSR12_5XQTCL, ENSR12_93LH9G, MMAB_1, MVK_1, MMAB_2, MVK_2
YY1FOXA1SP1ATF3RXRAJUNDFOXA2CEBPBHNF4AARNTCHD4FOXA2NFRKBLEF1RNF2SMARCE1RFX1E2F1KDM1AMNTL3MBTL2ZNF24TBPTEAD4AFF1HDAC2EP400MIER1ZNF263HDAC1CREB1GMEB1ATF4BRD9KDM5AZNF217ATF7MEF2BMGARESTSIN3AATF3ZBTB40MTA3MXI1ZSCAN29MTA2TCF12SMARCC2ZNF592CBX3E4F1MYCNCOA1MAXSAP30ATF2CTCFCBFA2T2POLR2ATAF9BZNF318BMI1ZNF579TRIM22RBFOX2CREMNR3C1PKNOX1AGO2EP300ELF1SMC3NFIBZNF407ZKSCAN1RAD51STAT1JUNBCORZNF184RFX5PHF8ZEB2MTA1RBM22USF2SMARCA4DPF2ZHX2EGR1CBX1JUNDNCOR1MITFTRIM28ZFP91CTBP1KDM4BZHX1AGO1RAD21FOSZFXBRCA1E2F6SKILKDM4AGABPB1NBNZBTB33MEIS2POLR2GGATA3TBL1XR1ESRRARLFHES1USF1ZEB1GATAD2BMLLT1CLOCKZNF316NFICCREB3L1IKZF1GABPAFOXK2ETS1PAX5BHLHE40TAF15TBX21ETV6RBM39E2F8FOXA1TRIM24RELBSIN3BPBX3ZNF639ZBTB2NR2C1PHF20RCOR1RB1ASH2LFIP1L1ZNF687NFATC1ARID3ATAF1NCOA6TAL1ZNF207BACH1PMLKLF5POU2F2ZZZ3SMARCA5ZBTB5CBX5C11orf30SIX5ELF4YY1PRDM10NRF1TCF7L2HCFC1CC2D1ASOX6FOSL2JUNBCBFBCHD1SKIHNRNPLLIRF2NR2F1DACH1RXRAZBED1KDM5BSP1NFE2L2SREBF2XRCC5HNF4ATFAP4TAF7NR2F2SMAD5GATA4TBX3DEAF1SREBF1IRF1ZNF143GABPAMAFKFOXA1E2F7FOXA2RFX5NFYAE2F4RUNX3IRF3GATA1RBM25MBD2ASH1LE2F6CEBPBNFYBNEUROD1PBX3PHF8SMC3BACH1SMARCE1SAP30ZSCAN29SIN3BRB1ZBTB40ATF2
MMABGH12J109581-12:109581428:G:A0.6421Enhancer105-eQTLs,Distancechr12:109581079-109582624ENSR12_93LHCQ
ZNF263MAXSP1HNF4ARXRARBFOX2POLR2AHNF4ASTAT3MYCFOSFOXA1CTCFRXRAPOLR2A
MMABGH12J109586-12:109586736:A:G0.6459Enhancer164-Distancechr12:109586257-109587001-
FOSSP1NCOR1CHD4EP300ELF1HDAC2ETS1ZBTB7AKDM1AJUNDSIN3ANR2F6HNF4GRXRAFOSL2HDAC1HNF4AASH2LCREMZNF24FOXA1FOXK2ETV4FOXA2ZHX2MAFKFOSL2ELF1SKITFAP4
MMABGH12J109588-12:109589017:C:T0.6508Enhancer154-eQTLs,Distancechr12:109588685-109589447-
ASH2LATF3JUNDEP300FOXA1FOXA2CHD4EGR1TCF7HNF4ADPF2ZBTB7AFOSL2ZKSCAN1CTCFRBM39YY1SP1KDM1AZHX2RXRAMAXNR2F6HDAC2RAD21HNF4AHNF4GPOLR2AZMYM3POLR2GHNRNPLUSF1RBFOX2RBM22AGO2
MMABGH12J109595-12:109595465:G:C2.1250Enhancer161EliteeQTLs,C-HiC,Distancechr12:109595200-109595717ENSR12_93LHHN
POLR2AAGO2POLR2GIKZF2PAX5IKZF1TCF7RUNX3EEDSPI1
MMABGH12J109597-12:109597968:C:G0.6947Enhancer347EliteeQTLs,Distancechr12:109597355-109598711ENSR12_CDTM4, ENSR12_5XR2GL, ENSR12_5XR2HK
HDAC1CTCFEGR1RBM39MXI1POLR2ASMC3HNRNPLLRAD21TRIM22PCBP1SIN3ANRF1POLR2GPTBP1XRCC5TAF15IKZF1ASH2LZNF444CBX3MYCCTBP1ATF7SOX6MTA3ZNF143TAF1EP300ETS1NCOR1RXRAATF3ETV4MYNNMAXELF1YY1TEAD4PRDM10ZKSCAN1SREBF1GABPATFAP4ZNF263CREMJUNDSP1HNF1AFOSL2FOXK2RUNX3HCFC1SMARCA4SMARCA5RB1FOXA1NR2F6RBBP5RESTBHLHE40ARNTRBFOX2RNF2NR2F2KDM1ARBM22MAFKFOXA1HNF4GHNF4AAGO1TAF15SMARCA4
MMABGH12J109603-12:109604543:A:G2.0282Enhancer162-Distancechr12:109603618-109604768-
ZMYM3KDM1ARCOR1NCOR1ZNF24ETV4RXRAARID3AGATA2RBM25NR2F6FOXA2TCF7EP300RAD21SKIHNF4ASP1HNF4GFOXA1
MMABGH12J109605-None0.0000Enhancer133EliteDistancechr12:109605034-109605145ENSR12_85827W
REST
MMABGH12J109606-12:109607113:G:T1.1748Enhancer205EliteeQTLs,Distancechr12:109605834-109607478ENSR12_BRQBG
ZMYM3BCORGATA2RBM39RAD21GATA2RCOR1EP300MXI1UBTFTCF12MEIS2SMARCA4FOXA1PKNOX1FOXA2
MMABGH12J109607-12:109608246:T:C1.0572Enhancer56-eQTLs,Distancechr12:109607820-109608749-
ZNF24
MMABGH12J109612-12:109616551:T:C1.4257Enhancer193-eQTLs,C-HiCchr12:109612307-109623300ENSR12_93LHNQ, ENSR12_BRQDL
KDM1ABCORRBM25CTCFRAD21ZMYM3YY1ZNF143SMC3SMARCA5EZH2EP300RESTFOXA1RAD21JUNDFOXA2EGR1HNF4GRXRASP1HNF4AEP300RCOR1NRF1MNTE2F1MTA3ATF2ATF7MEIS2CREB1ATF3MITFATF4EP300RAD51BHLHE40USF2NCOA1PKNOX1FOXM1JUNDCREMMAXCEBPBKDM1AMYBL2BRD9SMARCA5ZMYM3RBM25BCORHNF4AFOXA2FOXA1CREB1ATF2RBM39HNRNPLRCOR1MXI1GATA2FOXA1RAD21
MMABGH12J109625-None0.0000Enhancer254EliteC-HiCchr12:109625113-109625486ENSR12_93LHS9
ATF2GATA2RCOR1CTCFPKNOX1MEIS2ATF3CREB1FOSFOSL2JUNDRAD21POLR2A
MMABGH12J109626-12:109627085:G:A0.5065Enhancer105-C-HiCchr12:109626550-109627391ENSR12_5XR7J7
KDM1ASMARCA5BCORRBM25ZMYM3
MMABGH12J109627-12:109627683:G:A0.1308Enhancer117-C-HiCchr12:109627469-109628202-
MITFRAD51USF2BHLHE40PTBP1KDM1ABCORZMYM3USF1ZNF143POLR2ARBM25
MMABGH12J109636-12:109637055:C:A0.9700Enhancer105-C-HiCchr12:109636131-109638499-
CREB1NCOA3ZNF444CTCFZMYM3RBM25
MMABGH12J109648-12:109648520:C:T2.0055Enhancer111-eQTLschr12:109648418-109649795-
MXI1RESTHNF4AMITFFOSL2JUNDBHLHE40USF2USF1
MMABGH12J109650-12:109651430:C:T1.6702Enhancer105-C-HiCchr12:109650411-109652085-
MNTEBF1FOXA1BCORZMYM3RBM25NFXL1
MMABGH12J109655-12:109657336:G:A0.5387Enhancer99-C-HiCchr12:109655231-109659181-
RCOR1GATA2USF1RAD21YY1RCOR1MXI1CREB1RAD51MITFUSF2USF1RNF2
MMABGH12J109706-12:109707127:C:T0.2619Enhancer287EliteC-HiCchr12:109706620-109707917-
CHD4KDM1ASMARCA5RBM25ZNF444ZNF207BRD9HDAC1BCORZNF24EHMT2SIX4ZNF143ZMYM3RCOR1GATA2GATA1ASH2LLCORLETV4CREMYY1POLR2GBHLHE40CBFA2T3TBPXRCC5RAD21SP1MAXNR2F6EP300TFAP4RXRARESTATF3MNTHNF4AHDAC2ZBTB33FOSL2NR2F2JUNDTCF7RFX5SKIHNF4GFOXA2RFX1NCOR1KAT2BCEBPBFOXA1FOXK2TCF12RBM22ARID3ANR2F6SIN3AEP300HNF4GFOXA1FOXA2MEIS2HDAC2MITFKDM1A
MMABGH12J109709-12:109710008:G:C2.9057Enhancer265EliteC-HiCchr12:109709124-109711260ENSR12_93LJQ2
HDAC2SMARCA5KDM1AZMYM3PTBP1ZNF143RBM25BCORRBM39RXRAELF1PRDM10ASH2LCTCFHDAC1EHMT2KDM1ACHD4NCOR1ZBTB33YY1FOSSKIJUNDTCF12FOSL2SP1RCOR1MNTRAD21MAXRESTZNF24FOXA2SIN3ATFAP4DPF2SMARCE1CTBP1RXRAEP300FOXA1ELF1ZNF579HNF4AMAFFNR3C1TBL1XR1ARID3ABCORZMYM3RBM25ZKSCAN1ZNF143SMARCA5RCOR1BHLHE40
MMABGH12J109711-12:109711905:C:A2.2530Enhancer195EliteC-HiCchr12:109711620-109712591ENSR12_BRQTP
PKNOX1ZMYM3NCOR1MEIS2HNF4GEP300HNF4ACREMESRRASP1USF1ZKSCAN1RBM39ZNF316FOXA2HNRNPLLTAF15EGR1POLR2AMAXUBTFZBTB7ARAD21
MMABGH12J109712-12:109712747:A:G0.0131Enhancer71-C-HiCchr12:109712618-109712965-
HDAC1
MMABGH12J109713-12:109714207:CGCCGCCGCCGCT:C1.3543Promoter/Enhancer472EliteC-HiCchr12:109713535-109717246ENSR12_93LJQS, ENSR12_5XRQC3, ENSR12_D7FZ9, ENSR12_5XRQF5, ENSR12_5XRQHX, ENSR12_5XRQJB, ENSR12_5XRQKK, ENSR12_5XRQQM, ENSR12_93LJRL, ENSR12_93LJRQ
HDAC1KDM1ACHD4HDAC2CTCFFOXM1SUZ12C11orf30MNTAFF1SKILZKSCAN1ZNF143CREB3L1NRF1SOX6HCFC1E2F8ZBTB40TBL1XR1ESRRAARID3AYY1E2F1MAFFE4F1GABPAPKNOX1ELK1GMEB1MAFKDEAF1ZNF217NCOR1KDM4BZNF263XRCC5FOXA1L3MBTL2GABPB1SKIELF1IKZF1RBM39MBD2RNF2PCBP1ZNF316EGR1MXI1SIX5ZBTB11ZEB2RESTMAXESR1ETS1STAT1SIN3ACTBP1RUNX3EP300RBM22SAP30TCF7L2ATF3MYCCREMRFX1SP1BHLHE40RFX5JUNELF4MEF2AUSF1SIN3BZNF592NR3C1TCF7BACH1E2F7E2F4JUNDPOLR2AIRF1RB1CREB1USF2PHF8E2F6NFYBFOSL1ZBTB7AIRF3BMI1TBPRBFOX2TAF1POLR2GUBTFRBM25TAF7RAD21PBX3ZFXARNTSIN3BASH2LPRPF4KDM4ARBBP5RAD21CTCFAGO2ZNF444RNF2HNRNPLLCTBP1SRSF4IKZF1NR3C1AGO1MAXEP300ZNF207XRCC5SMARCA4RLFSMC3MNTSKINRF1DPF2GATAD2BKDM5BYY1EGR1RB1BHLHE40AGO2NCOA6PCBP1RFX1CREME2F1ATF2CREB1BMI1EGR1ZBTB33SMARCA4POLR2APOLR2ASP1RAD21MAXHNF4AFOXA2CTCFFOXA1EP300RXRANR3C1CEBPBKDM1ABCORZMYM3RBM25NR2F1
MMABGH12J109717-12:109717766:T:C0.9405Enhancer254EliteC-HiCchr12:109717326-109721357ENSR12_93LJS9, ENSR12_CDTXW, ENSR12_5XRRCP
NR2F1ESRRAFOSCTBP1BHLHE40JUNSMARCA5KDM1AZMYM3RFX1RBM25BCORSMARCA4SMC3MXI1GATA2EP300ASH2LNANOGHDAC2JUNDAGO2ATF2CTCFEGR1POLR2AMXI1IKZF1RAD21HDAC2XRCC5GATA2C11orf30TRIM22MAFKBACH1SMC3NFE2GATA3RCOR1SMARCA4MXI1EP300YY1NFICNFIBRCOR1ZMYM3ZNF143RBM25MXI1YY1SP1RAD21MLLT1RXRA
MMABGH12J109721-12:109722114:C:T0.4377Enhancer230EliteC-HiCchr12:109721415-109722884-
MXI1YY1SP1RAD21MLLT1RXRAPOLR2AHNF4ACHD4KDM1ARCOR1FOXP1TFAP4SP1ASH2LHDAC2RXRAELF1BHLHE40ZMYM3EP300FOXA2XRCC5FOSL2HNF4AZKSCAN1FOXA1HNF4GRESTHNRNPL
MMABGH12J109751-12:109752475:TTGTCCC:T0.0456Enhancer188EliteC-HiCchr12:109751530-109753452-
NR2F2MXI1RFX5GATA3NCOR1RESTEP300KDM1AGATA2YY1RCOR1ETV4FOXA1FOXA2RXRA
MMABGH12J109775-12:109775437:G:A0.2903Enhancer238EliteC-HiCchr12:109775355-109775545ENSR12_BRR7T, ENSR12_5XS5XQ
HDAC2CTCFKDM1ARBM39SMARCA5PHF20ZNF444NFXL1ZMYM3ZNF263ZNF143RBM25SMC3BCORRAD21ZBTB7AXRCC5NCOA1ESRRAPOLR2ACC2D1AKLF16JUNDZKSCAN1YY1ARID2TRIM22ELF1GATA3RESTEP300