rs10747608

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0294 (8824/29922,GnomAD)
A==0279 (8138/29118,TOPMED)
A==0280 (1403/5008,1000G)
A==0293 (1129/3854,ALSPAC)
A==0300 (1113/3708,TWINSUK)
chr12:51222798 (GRCh38.p7) (12q13.13)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.51222798A>G
GRCh37.p13 chr 12NC_000012.11:g.51616582A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.232G=0.768
1000GenomesAmericanSub694A=0.330G=0.670
1000GenomesEast AsianSub1008A=0.288G=0.712
1000GenomesEuropeSub1006A=0.307G=0.693
1000GenomesGlobalStudy-wide5008A=0.280G=0.720
1000GenomesSouth AsianSub978A=0.280G=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.293G=0.707
The Genome Aggregation DatabaseAfricanSub8708A=0.260G=0.740
The Genome Aggregation DatabaseAmericanSub836A=0.320G=0.680
The Genome Aggregation DatabaseEast AsianSub1620A=0.285G=0.715
The Genome Aggregation DatabaseEuropeSub18456A=0.309G=0.690
The Genome Aggregation DatabaseGlobalStudy-wide29922A=0.294G=0.705
The Genome Aggregation DatabaseOtherSub302A=0.370G=0.630
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.279G=0.720
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.300G=0.700
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs107476080.000851alcohol dependence21314694

eQTL of rs10747608 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr12:51616582POU6F1ENSG00000184271.11A>G6.1624e-45105Cerebellum

meQTL of rs10747608 in Fetal Brain

Probe ID Position Gene beta p-value
cg20712883chr12:51590929POU6F1-0.02041211077773315.7756e-12

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 )
chr125158085151580906E067-35676
chr125158124551581345E067-35237
chr125159869351598929E067-17653
chr125159910851599158E067-17424
chr125159919451599238E067-17344
chr125159927851599318E067-17264
chr125159936051599500E067-17082
chr125160425451604304E067-12278
chr125160430851604419E067-12163
chr125160451751604679E067-11903
chr125160469151605285E067-11297
chr125160531951605390E067-11192
chr125160545151605562E067-11020
chr125161941251619462E0672830
chr125163437151634548E06717789
chr125163464751634720E06718065
chr125163478951635160E06718207
chr125163518351635257E06718601
chr125157713551577231E068-39351
chr125157756351577617E068-38965
chr125159846251598536E068-18046
chr125159869351598929E068-17653
chr125160425451604304E068-12278
chr125160430851604419E068-12163
chr125160451751604679E068-11903
chr125160469151605285E068-11297
chr125160531951605390E068-11192
chr125160545151605562E068-11020
chr125160941151609461E068-7121
chr125160946551609542E068-7040
chr125161004651610187E068-6395
chr125163464751634720E06818065
chr125163478951635160E06818207
chr125163518351635257E06818601
chr125163534651635470E06818764
chr125163577051635820E06819188
chr125164066151640747E06824079
chr125164084751640932E06824265
chr125157713551577231E069-39351
chr125157756351577617E069-38965
chr125159910851599158E069-17424
chr125159919451599238E069-17344
chr125159927851599318E069-17264
chr125159936051599500E069-17082
chr125160425451604304E069-12278
chr125160430851604419E069-12163
chr125160531951605390E069-11192
chr125161616451616259E069-323
chr125161636151616433E069-149
chr125161941251619462E0692830
chr125163437151634548E06917789
chr125163464751634720E06918065
chr125163478951635160E06918207
chr125163518351635257E06918601
chr125163657151636672E06919989
chr125163678851637141E06920206
chr125157756351577617E070-38965
chr125157815551578272E070-38310
chr125160941151609461E070-7121
chr125160946551609542E070-7040
chr125160961151609655E070-6927
chr125161735851617398E070776
chr125162021451620268E0703632
chr125162271751622828E0706135
chr125162288551623011E0706303
chr125162331251623471E0706730
chr125157756351577617E071-38965
chr125159919451599238E071-17344
chr125159927851599318E071-17264
chr125159936051599500E071-17082
chr125160425451604304E071-12278
chr125160430851604419E071-12163
chr125160451751604679E071-11903
chr125160469151605285E071-11297
chr125160531951605390E071-11192
chr125160545151605562E071-11020
chr125161616451616259E071-323
chr125161636151616433E071-149
chr125161645151616611E0710
chr125163437151634548E07117789
chr125163464751634720E07118065
chr125163478951635160E07118207
chr125163518351635257E07118601
chr125163534651635470E07118764
chr125164084751640932E07124265
chr125157756351577617E072-38965
chr125159846251598536E072-18046
chr125159869351598929E072-17653
chr125159910851599158E072-17424
chr125159919451599238E072-17344
chr125159927851599318E072-17264
chr125159936051599500E072-17082
chr125160425451604304E072-12278
chr125160430851604419E072-12163
chr125160545151605562E072-11020
chr125161616451616259E072-323
chr125161636151616433E072-149
chr125161645151616611E0720
chr125163437151634548E07217789
chr125163464751634720E07218065
chr125163478951635160E07218207
chr125163518351635257E07218601
chr125163534651635470E07218764
chr125163577051635820E07219188
chr125163588951636241E07219307
chr125160430851604419E073-12163
chr125160451751604679E073-11903
chr125160469151605285E073-11297
chr125160531951605390E073-11192
chr125160545151605562E073-11020
chr125161004651610187E073-6395
chr125161369351613793E073-2789
chr125163518351635257E07318601
chr125163534651635470E07318764
chr125163577051635820E07319188
chr125163588951636241E07319307
chr125163994151640616E07323359
chr125164066151640747E07324079
chr125159234551592557E074-24025
chr125159820351598257E074-18325
chr125159846251598536E074-18046
chr125159869351598929E074-17653
chr125159910851599158E074-17424
chr125159919451599238E074-17344
chr125159927851599318E074-17264
chr125159936051599500E074-17082
chr125160425451604304E074-12278
chr125160430851604419E074-12163
chr125160531951605390E074-11192
chr125160545151605562E074-11020
chr125161636151616433E074-149
chr125161941251619462E0742830
chr125163518351635257E07418601
chr125161369351613793E081-2789
chr125161385551614032E081-2550
chr125161941251619462E0812830
chr125162021451620268E0813632
chr125162103451621133E0814452
chr125162271751622828E0816135
chr125162288551623011E0816303
chr125162331251623471E0816730
chr125162021451620268E0823632
chr125162271751622828E0826135
chr125162288551623011E0826303
chr125162331251623471E0826730
chr125163437151634548E08217789
chr125163464751634720E08218065










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr125161041151610774E067-5808
chr125161078751613613E067-2969
chr125163174651633300E06715164
chr125166278551665217E06746203
chr125161041151610774E068-5808
chr125161078751613613E068-2969
chr125163174651633300E06815164
chr125166278551665217E06846203
chr125161041151610774E069-5808
chr125161078751613613E069-2969
chr125163174651633300E06915164
chr125166278551665217E06946203
chr125161041151610774E070-5808
chr125161078751613613E070-2969
chr125163174651633300E07015164
chr125161041151610774E071-5808
chr125161078751613613E071-2969
chr125163174651633300E07115164
chr125166278551665217E07146203
chr125161041151610774E072-5808
chr125161078751613613E072-2969
chr125163174651633300E07215164
chr125166278551665217E07246203
chr125161041151610774E073-5808
chr125161078751613613E073-2969
chr125163174651633300E07315164
chr125166278551665217E07346203
chr125161041151610774E074-5808
chr125161078751613613E074-2969
chr125163174651633300E07415164
chr125166278551665217E07446203
chr125163174651633300E08115164
chr125161041151610774E082-5808
chr125161078751613613E082-2969
chr125163174651633300E08215164