rs12781214

Homo sapiens
C>T
CTBP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0081 (2442/29968,GnomAD)
T=0097 (2843/29118,TOPMED)
T=0097 (486/5008,1000G)
T=0088 (338/3854,ALSPAC)
T=0093 (346/3708,TWINSUK)
chr10:125013480 (GRCh38.p7) (10q26.13)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.125013480C>T
GRCh37.p13 chr 10NC_000010.10:g.126702049C>T

Gene: CTBP2, C-terminal binding protein 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CTBP2 transcript variant 3NM_001083914.2:c.N/AIntron Variant
CTBP2 transcript variant 4NM_001290214.2:c.N/AIntron Variant
CTBP2 transcript variant 5NM_001290215.2:c.N/AIntron Variant
CTBP2 transcript variant 6NM_001321012.1:c.N/AIntron Variant
CTBP2 transcript variant 7NM_001321013.1:c.N/AIntron Variant
CTBP2 transcript variant 8NM_001321014.1:c.N/AIntron Variant
CTBP2 transcript variant 1NM_001329.3:c.N/AIntron Variant
CTBP2 transcript variant 2NM_022802.2:c.N/AIntron Variant
CTBP2 transcript variant X2XM_005269561.2:c.N/AIntron Variant
CTBP2 transcript variant X4XM_005269564.2:c.N/AIntron Variant
CTBP2 transcript variant X10XM_005269567.2:c.N/AIntron Variant
CTBP2 transcript variant X11XM_005269568.4:c.N/AIntron Variant
CTBP2 transcript variant X13XM_005269569.2:c.N/AIntron Variant
CTBP2 transcript variant X15XM_005269571.2:c.N/AIntron Variant
CTBP2 transcript variant X14XM_005269572.3:c.N/AIntron Variant
CTBP2 transcript variant X6XM_006717642.2:c.N/AIntron Variant
CTBP2 transcript variant X7XM_011539351.1:c.N/AIntron Variant
CTBP2 transcript variant X8XM_011539353.1:c.N/AIntron Variant
CTBP2 transcript variant X9XM_011539354.1:c.N/AIntron Variant
CTBP2 transcript variant X12XM_011539355.1:c.N/AIntron Variant
CTBP2 transcript variant X16XM_011539357.1:c.N/AIntron Variant
CTBP2 transcript variant X17XM_011539358.1:c.N/AIntron Variant
CTBP2 transcript variant X3XM_017015756.1:c.N/AIntron Variant
CTBP2 transcript variant X5XM_017015757.1:c.N/AIntron Variant
CTBP2 transcript variant X1XM_011539349.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.904T=0.096
1000GenomesAmericanSub694C=0.940T=0.060
1000GenomesEast AsianSub1008C=0.991T=0.009
1000GenomesEuropeSub1006C=0.908T=0.092
1000GenomesGlobalStudy-wide5008C=0.903T=0.097
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.912T=0.088
The Genome Aggregation DatabaseAfricanSub8716C=0.910T=0.090
The Genome Aggregation DatabaseAmericanSub838C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1620C=0.994T=0.006
The Genome Aggregation DatabaseEuropeSub18492C=0.916T=0.083
The Genome Aggregation DatabaseGlobalStudy-wide29968C=0.918T=0.081
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.902T=0.097
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.907T=0.093
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs127812140.00055alcohol dependence20201924

eQTL of rs12781214 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs12781214 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr10126653596126653637E067-48412
chr10126653725126653787E067-48262
chr10126657241126657291E067-44758
chr10126657312126657352E067-44697
chr10126657474126657579E067-44470
chr10126657619126657682E067-44367
chr10126657941126658047E067-44002
chr10126659322126659375E067-42674
chr10126659422126659762E067-42287
chr10126659833126660298E067-41751
chr10126660504126660564E067-41485
chr10126666330126666469E067-35580
chr10126666509126666582E067-35467
chr10126666719126666894E067-35155
chr10126666995126667130E067-34919
chr10126667670126667710E067-34339
chr10126671882126672288E067-29761
chr10126672294126672428E067-29621
chr10126680803126681362E067-20687
chr10126681366126681604E067-20445
chr10126681683126681933E067-20116
chr10126681939126682051E067-19998
chr10126682104126682187E067-19862
chr10126682202126682264E067-19785
chr10126682309126682391E067-19658
chr10126682434126682493E067-19556
chr10126682528126682607E067-19442
chr10126682667126682916E067-19133
chr10126683285126683351E067-18698
chr10126683583126684012E067-18037
chr10126684069126684123E067-17926
chr10126688033126688781E067-13268
chr10126688820126690221E067-11828
chr10126690230126691330E067-10719
chr10126691489126691688E067-10361
chr10126691958126692049E067-10000
chr10126692175126692351E067-9698
chr10126692373126692433E067-9616
chr10126692439126692728E067-9321
chr10126692864126692949E067-9100
chr10126693092126693150E067-8899
chr10126693235126693420E067-8629
chr10126693487126693564E067-8485
chr10126693751126693829E067-8220
chr10126693985126694112E067-7937
chr10126694157126694222E067-7827
chr10126694329126694409E067-7640
chr10126694516126694715E067-7334
chr10126694737126694837E067-7212
chr10126694948126695176E067-6873
chr10126695238126695373E067-6676
chr10126695417126696506E067-5543
chr10126696831126697472E067-4577
chr10126697751126698783E067-3266
chr10126698836126698939E067-3110
chr10126698955126699373E067-2676
chr10126703051126705935E0671002
chr10126706264126706371E0674215
chr10126706402126706610E0674353
chr10126706664126706816E0674615
chr10126707220126707390E0675171
chr10126707436126707527E0675387
chr10126707606126707739E0675557
chr10126707778126707954E0675729
chr10126708070126708306E0676021
chr10126708466126708528E0676417
chr10126708692126708746E0676643
chr10126709028126709298E0676979
chr10126709307126709478E0677258
chr10126710634126710834E0678585
chr10126710905126711130E0678856
chr10126711171126711290E0679122
chr10126711439126711556E0679390
chr10126711569126711687E0679520
chr10126711729126713643E0679680
chr10126713726126713784E06711677
chr10126713898126714541E06711849
chr10126716452126716876E06714403
chr10126716898126716953E06714849
chr10126716968126717455E06714919
chr10126723372126724386E06721323
chr10126724598126724777E06722549
chr10126724871126724965E06722822
chr10126725118126725168E06723069
chr10126725291126725513E06723242
chr10126727136126728378E06725087
chr10126736553126737479E06734504
chr10126737550126737600E06735501
chr10126742956126743011E06740907
chr10126743106126743607E06741057
chr10126743613126743811E06741564
chr10126743838126743925E06741789
chr10126743946126744062E06741897
chr10126744089126744482E06742040
chr10126744802126747085E06742753
chr10126748325126751002E06746276
chr10126751006126751133E06748957
chr10126658871126658965E068-43084
chr10126659072126659177E068-42872
chr10126659322126659375E068-42674
chr10126659422126659762E068-42287
chr10126659833126660298E068-41751
chr10126660504126660564E068-41485
chr10126660713126660786E068-41263
chr10126666330126666469E068-35580
chr10126666509126666582E068-35467
chr10126666719126666894E068-35155
chr10126666995126667130E068-34919
chr10126671718126671861E068-30188
chr10126671882126672288E068-29761
chr10126672294126672428E068-29621
chr10126680803126681362E068-20687
chr10126681366126681604E068-20445
chr10126681683126681933E068-20116
chr10126681939126682051E068-19998
chr10126682104126682187E068-19862
chr10126682202126682264E068-19785
chr10126682309126682391E068-19658
chr10126682434126682493E068-19556
chr10126682528126682607E068-19442
chr10126682667126682916E068-19133
chr10126682928126682982E068-19067
chr10126683583126684012E068-18037
chr10126684069126684123E068-17926
chr10126684204126684391E068-17658
chr10126687454126687514E068-14535
chr10126687571126687668E068-14381
chr10126687689126687835E068-14214
chr10126688033126688781E068-13268
chr10126688820126690221E068-11828
chr10126690230126691330E068-10719
chr10126692439126692728E068-9321
chr10126692864126692949E068-9100
chr10126693092126693150E068-8899
chr10126693235126693420E068-8629
chr10126693487126693564E068-8485
chr10126693751126693829E068-8220
chr10126693985126694112E068-7937
chr10126694114126694154E068-7895
chr10126694157126694222E068-7827
chr10126694329126694409E068-7640
chr10126694516126694715E068-7334
chr10126694737126694837E068-7212
chr10126694948126695176E068-6873
chr10126695238126695373E068-6676
chr10126695417126696506E068-5543
chr10126697751126698783E068-3266
chr10126698836126698939E068-3110
chr10126698955126699373E068-2676
chr10126703051126705935E0681002
chr10126706264126706371E0684215
chr10126706402126706610E0684353
chr10126706664126706816E0684615
chr10126707220126707390E0685171
chr10126707436126707527E0685387
chr10126707606126707739E0685557
chr10126707778126707954E0685729
chr10126708070126708306E0686021
chr10126710634126710834E0688585
chr10126710905126711130E0688856
chr10126711171126711290E0689122
chr10126711439126711556E0689390
chr10126711569126711687E0689520
chr10126711729126713643E0689680
chr10126718719126718799E06816670
chr10126718843126718920E06816794
chr10126724598126724777E06822549
chr10126724871126724965E06822822
chr10126725118126725168E06823069
chr10126725291126725513E06823242
chr10126725731126726318E06823682
chr10126726680126726736E06824631
chr10126726900126726992E06824851
chr10126727041126727114E06824992
chr10126727136126728378E06825087
chr10126730694126730994E06828645
chr10126732473126732668E06830424
chr10126732725126733157E06830676
chr10126733235126733322E06831186
chr10126733419126733469E06831370
chr10126733547126733854E06831498
chr10126736553126737479E06834504
chr10126737550126737600E06835501
chr10126737666126738316E06835617
chr10126738482126738543E06836433
chr10126738546126738608E06836497
chr10126738662126738712E06836613
chr10126738872126738950E06836823
chr10126739012126739291E06836963
chr10126740436126740756E06838387
chr10126740977126741059E06838928
chr10126741067126741207E06839018
chr10126741223126741379E06839174
chr10126741380126741894E06839331
chr10126742010126742142E06839961
chr10126742193126742367E06840144
chr10126742387126742471E06840338
chr10126742718126742814E06840669
chr10126742915126742955E06840866
chr10126742956126743011E06840907
chr10126743106126743607E06841057
chr10126743613126743811E06841564
chr10126743838126743925E06841789
chr10126743946126744062E06841897
chr10126744089126744482E06842040
chr10126747174126747218E06845125
chr10126747234126747278E06845185
chr10126747515126747565E06845466
chr10126747589126747812E06845540
chr10126747910126747957E06845861
chr10126748094126748244E06846045
chr10126748325126751002E06846276
chr10126751006126751133E06848957
chr10126652516126653133E069-48916
chr10126653596126653637E069-48412
chr10126653725126653787E069-48262
chr10126657474126657579E069-44470
chr10126657619126657682E069-44367
chr10126659072126659177E069-42872
chr10126659322126659375E069-42674
chr10126659422126659762E069-42287
chr10126659833126660298E069-41751
chr10126660504126660564E069-41485
chr10126660713126660786E069-41263
chr10126666330126666469E069-35580
chr10126666509126666582E069-35467
chr10126666719126666894E069-35155
chr10126666995126667130E069-34919
chr10126671882126672288E069-29761
chr10126672294126672428E069-29621
chr10126680803126681362E069-20687
chr10126681366126681604E069-20445
chr10126681683126681933E069-20116
chr10126681939126682051E069-19998
chr10126682104126682187E069-19862
chr10126682202126682264E069-19785
chr10126682309126682391E069-19658
chr10126682434126682493E069-19556
chr10126682528126682607E069-19442
chr10126682667126682916E069-19133
chr10126682928126682982E069-19067
chr10126683100126683200E069-18849
chr10126683285126683351E069-18698
chr10126683583126684012E069-18037
chr10126684069126684123E069-17926
chr10126684204126684391E069-17658
chr10126684403126684605E069-17444
chr10126687454126687514E069-14535
chr10126687571126687668E069-14381
chr10126687689126687835E069-14214
chr10126688033126688781E069-13268
chr10126688820126690221E069-11828
chr10126690230126691330E069-10719
chr10126691489126691688E069-10361
chr10126691958126692049E069-10000
chr10126692175126692351E069-9698
chr10126692373126692433E069-9616
chr10126692439126692728E069-9321
chr10126692864126692949E069-9100
chr10126693092126693150E069-8899
chr10126694737126694837E069-7212
chr10126694948126695176E069-6873
chr10126695238126695373E069-6676
chr10126695417126696506E069-5543
chr10126696831126697472E069-4577
chr10126697539126697739E069-4310
chr10126697751126698783E069-3266
chr10126698836126698939E069-3110
chr10126698955126699373E069-2676
chr10126702580126702735E069531
chr10126702755126702904E069706
chr10126703051126705935E0691002
chr10126706264126706371E0694215
chr10126706402126706610E0694353
chr10126706664126706816E0694615
chr10126707220126707390E0695171
chr10126707436126707527E0695387
chr10126707606126707739E0695557
chr10126707778126707954E0695729
chr10126708070126708306E0696021
chr10126708466126708528E0696417
chr10126708692126708746E0696643
chr10126709028126709298E0696979
chr10126709731126709864E0697682
chr10126710634126710834E0698585
chr10126710905126711130E0698856
chr10126711171126711290E0699122
chr10126711439126711556E0699390
chr10126711569126711687E0699520
chr10126713726126713784E06911677
chr10126716452126716876E06914403
chr10126716898126716953E06914849
chr10126716968126717455E06914919
chr10126723372126724386E06921323
chr10126724598126724777E06922549
chr10126724871126724965E06922822
chr10126725118126725168E06923069
chr10126725291126725513E06923242
chr10126725731126726318E06923682
chr10126726680126726736E06924631
chr10126726900126726992E06924851
chr10126727041126727114E06924992
chr10126727136126728378E06925087
chr10126733235126733322E06931186
chr10126735287126735413E06933238
chr10126735510126735554E06933461
chr10126735712126735766E06933663
chr10126736052126736175E06934003
chr10126736553126737479E06934504
chr10126737550126737600E06935501
chr10126740436126740756E06938387
chr10126740977126741059E06938928
chr10126741067126741207E06939018
chr10126741223126741379E06939174
chr10126741380126741894E06939331
chr10126742010126742142E06939961
chr10126742193126742367E06940144
chr10126742387126742471E06940338
chr10126742718126742814E06940669
chr10126742915126742955E06940866
chr10126742956126743011E06940907
chr10126743106126743607E06941057
chr10126743613126743811E06941564
chr10126743838126743925E06941789
chr10126743946126744062E06941897
chr10126744089126744482E06942040
chr10126744802126747085E06942753
chr10126747174126747218E06945125
chr10126747234126747278E06945185
chr10126747910126747957E06945861
chr10126748094126748244E06946045
chr10126748325126751002E06946276
chr10126751006126751133E06948957
chr10126683583126684012E070-18037
chr10126684069126684123E070-17926
chr10126687454126687514E070-14535
chr10126687571126687668E070-14381
chr10126687689126687835E070-14214
chr10126688033126688781E070-13268
chr10126688820126690221E070-11828
chr10126690230126691330E070-10719
chr10126693235126693420E070-8629
chr10126693487126693564E070-8485
chr10126693751126693829E070-8220
chr10126693985126694112E070-7937
chr10126694114126694154E070-7895
chr10126694157126694222E070-7827
chr10126694329126694409E070-7640
chr10126694516126694715E070-7334
chr10126694737126694837E070-7212
chr10126694948126695176E070-6873
chr10126695238126695373E070-6676
chr10126695417126696506E070-5543
chr10126697751126698783E070-3266
chr10126706264126706371E0704215
chr10126706402126706610E0704353
chr10126710041126710380E0707992
chr10126710412126710555E0708363
chr10126710634126710834E0708585
chr10126710905126711130E0708856
chr10126711171126711290E0709122
chr10126711439126711556E0709390
chr10126711569126711687E0709520
chr10126713726126713784E07011677
chr10126713898126714541E07011849
chr10126716452126716876E07014403
chr10126716898126716953E07014849
chr10126716968126717455E07014919
chr10126717522126717616E07015473
chr10126717804126717884E07015755
chr10126718118126718646E07016069
chr10126718719126718799E07016670
chr10126718843126718920E07016794
chr10126719124126719249E07017075
chr10126719276126719366E07017227
chr10126719390126719685E07017341
chr10126719806126719856E07017757
chr10126720090126720169E07018041
chr10126720251126720431E07018202
chr10126720436126720480E07018387
chr10126720938126721003E07018889
chr10126721095126721201E07019046
chr10126721245126721305E07019196
chr10126721680126721752E07019631
chr10126721851126722048E07019802
chr10126723179126723315E07021130
chr10126723372126724386E07021323
chr10126724598126724777E07022549
chr10126724871126724965E07022822
chr10126725118126725168E07023069
chr10126725291126725513E07023242
chr10126725731126726318E07023682
chr10126728410126728467E07026361
chr10126728510126728684E07026461
chr10126728926126728970E07026877
chr10126729359126729409E07027310
chr10126729598126729668E07027549
chr10126730021126730387E07027972
chr10126730444126730484E07028395
chr10126730574126730670E07028525
chr10126730694126730994E07028645
chr10126731093126731682E07029044
chr10126736553126737479E07034504
chr10126737550126737600E07035501
chr10126737666126738316E07035617
chr10126739012126739291E07036963
chr10126739299126739388E07037250
chr10126739418126739462E07037369
chr10126739471126739525E07037422
chr10126739548126739592E07037499
chr10126744802126747085E07042753
chr10126747174126747218E07045125
chr10126748325126751002E07046276
chr10126652516126653133E071-48916
chr10126653596126653637E071-48412
chr10126653725126653787E071-48262
chr10126657241126657291E071-44758
chr10126657312126657352E071-44697
chr10126657474126657579E071-44470
chr10126657619126657682E071-44367
chr10126659072126659177E071-42872
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chr10126730021126730387E08127972
chr10126730444126730484E08128395
chr10126730574126730670E08128525
chr10126730694126730994E08128645
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chr10126747515126747565E08145466
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chr10126747910126747957E08145861
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chr10126748325126751002E08146276
chr10126688820126690221E082-11828
chr10126694329126694409E082-7640
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chr10126694737126694837E082-7212
chr10126694948126695176E082-6873
chr10126695238126695373E082-6676
chr10126697751126698783E082-3266
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chr10126698955126699373E082-2676
chr10126710412126710555E0828363
chr10126710634126710834E0828585
chr10126710905126711130E0828856
chr10126711171126711290E0829122
chr10126713726126713784E08211677
chr10126713898126714541E08211849
chr10126714628126714875E08212579
chr10126716452126716876E08214403
chr10126716898126716953E08214849
chr10126716968126717455E08214919
chr10126724598126724777E08222549
chr10126724871126724965E08222822
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chr10126727136126728378E08225087
chr10126730574126730670E08228525
chr10126730694126730994E08228645
chr10126736553126737479E08234504
chr10126738482126738543E08236433
chr10126738546126738608E08236497
chr10126744802126747085E08242753
chr10126747515126747565E08245466