rs8180531

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0289 (8654/29872,GnomAD)
C=0266 (7755/29118,TOPMED)
C=0373 (1867/5008,1000G)
C=0246 (948/3854,ALSPAC)
C=0264 (980/3708,TWINSUK)
chr5:32215409 (GRCh38.p7) (5p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
136 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.32215409T>C
GRCh37.p13 chr 5NC_000005.9:g.32215515T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.750C=0.250
1000GenomesAmericanSub694T=0.640C=0.360
1000GenomesEast AsianSub1008T=0.444C=0.556
1000GenomesEuropeSub1006T=0.695C=0.305
1000GenomesGlobalStudy-wide5008T=0.627C=0.373
1000GenomesSouth AsianSub978T=0.570C=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.754C=0.246
The Genome Aggregation DatabaseAfricanSub8706T=0.740C=0.260
The Genome Aggregation DatabaseAmericanSub836T=0.680C=0.320
The Genome Aggregation DatabaseEast AsianSub1594T=0.424C=0.576
The Genome Aggregation DatabaseEuropeSub18434T=0.722C=0.277
The Genome Aggregation DatabaseGlobalStudy-wide29872T=0.710C=0.289
The Genome Aggregation DatabaseOtherSub302T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.733C=0.266
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.736C=0.264
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
rs81805310.000289alcohol dependence20201924

eQTL of rs8180531 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 rs8180531 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 )
chr53216579532165875E067-49640
chr53216590232166010E067-49505
chr53216978932169839E067-45676
chr53217010332170192E067-45323
chr53217039032170511E067-45004
chr53217063032170862E067-44653
chr53217095332171293E067-44222
chr53222411232224486E0678597
chr53222450932224739E0678994
chr53222474032224890E0679225
chr53223206932232444E06716554
chr53223250532233252E06716990
chr53223338032233578E06717865
chr53223359232234499E06718077
chr53223459232234772E06719077
chr53223709332237149E06721578
chr53223727032237328E06721755
chr53216579532165875E068-49640
chr53216590232166010E068-49505
chr53216649232166601E068-48914
chr53222547332225964E0689958
chr53223206932232444E06816554
chr53223250532233252E06816990
chr53223338032233578E06817865
chr53223359232234499E06818077
chr53223459232234772E06819077
chr53223709332237149E06821578
chr53223727032237328E06821755
chr53224116632241527E06825651
chr53224159032241972E06826075
chr53224211732242167E06826602
chr53225183632251886E06836321
chr53225211332252313E06836598
chr53225501332255701E06839498
chr53225576732256071E06840252
chr53216867432168906E069-46609
chr53216978932169839E069-45676
chr53222411232224486E0698597
chr53222450932224739E0698994
chr53222474032224890E0699225
chr53223206932232444E06916554
chr53223250532233252E06916990
chr53223338032233578E06917865
chr53223359232234499E06918077
chr53223459232234772E06919077
chr53223727032237328E06921755
chr53224159032241972E06926075
chr53217063032170862E070-44653
chr53223359232234499E07018077
chr53223459232234772E07019077
chr53225576732256071E07040252
chr53216579532165875E071-49640
chr53216590232166010E071-49505
chr53216867432168906E071-46609
chr53216978932169839E071-45676
chr53217010332170192E071-45323
chr53217039032170511E071-45004
chr53217063032170862E071-44653
chr53222411232224486E0718597
chr53222450932224739E0718994
chr53222474032224890E0719225
chr53223206932232444E07116554
chr53223250532233252E07116990
chr53223338032233578E07117865
chr53223359232234499E07118077
chr53223459232234772E07119077
chr53225183632251886E07136321
chr53225211332252313E07136598
chr53216579532165875E072-49640
chr53216590232166010E072-49505
chr53221800332218569E0722488
chr53221859632218701E0723081
chr53222411232224486E0728597
chr53222450932224739E0728994
chr53222474032224890E0729225
chr53223049432231059E07214979
chr53223206932232444E07216554
chr53223250532233252E07216990
chr53223338032233578E07217865
chr53223359232234499E07218077
chr53223459232234772E07219077
chr53216867432168906E073-46609
chr53216978932169839E073-45676
chr53217063032170862E073-44653
chr53217095332171293E073-44222
chr53221800332218569E0732488
chr53223206932232444E07316554
chr53223250532233252E07316990
chr53223338032233578E07317865
chr53223359232234499E07318077
chr53223459232234772E07319077
chr53223709332237149E07321578
chr53223727032237328E07321755
chr53224116632241527E07325651
chr53225501332255701E07339498
chr53225576732256071E07340252
chr53216579532165875E074-49640
chr53216590232166010E074-49505
chr53216867432168906E074-46609
chr53216978932169839E074-45676
chr53217010332170192E074-45323
chr53217039032170511E074-45004
chr53217063032170862E074-44653
chr53217095332171293E074-44222
chr53221800332218569E0742488
chr53221859632218701E0743081
chr53223206932232444E07416554
chr53223250532233252E07416990
chr53223338032233578E07417865
chr53223359232234499E07418077
chr53223459232234772E07419077
chr53223709332237149E07421578
chr53216978932169839E081-45676
chr53217010332170192E081-45323
chr53217039032170511E081-45004
chr53217063032170862E081-44653
chr53217095332171293E081-44222
chr53217142332171669E081-43846
chr53217173832171932E081-43583
chr53221800332218569E0812488
chr53221859632218701E0813081
chr53223250532233252E08116990
chr53224116632241527E08125651
chr53224159032241972E08126075
chr53224211732242167E08126602
chr53224293132243120E08127416
chr53224329632243370E08127781
chr53225501332255701E08139498
chr53225576732256071E08140252
chr53226035932260556E08144844
chr53226380532264347E08148290
chr53216867432168906E082-46609
chr53216978932169839E082-45676
chr53217095332171293E082-44222
chr53221800332218569E0822488
chr53225576732256071E08240252










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr53217221632172565E067-42950
chr53217263032172703E067-42812
chr53217276032175560E067-39955
chr53217221632172565E068-42950
chr53217263032172703E068-42812
chr53217276032175560E068-39955
chr53217221632172565E069-42950
chr53217263032172703E069-42812
chr53217276032175560E069-39955
chr53217221632172565E070-42950
chr53217263032172703E070-42812
chr53217276032175560E070-39955
chr53217221632172565E071-42950
chr53217263032172703E071-42812
chr53217276032175560E071-39955
chr53217221632172565E072-42950
chr53217263032172703E072-42812
chr53217276032175560E072-39955
chr53217221632172565E073-42950
chr53217263032172703E073-42812
chr53217276032175560E073-39955
chr53217221632172565E074-42950
chr53217263032172703E074-42812
chr53217276032175560E074-39955
chr53217221632172565E081-42950
chr53217263032172703E081-42812
chr53217276032175560E081-39955
chr53217221632172565E082-42950
chr53217263032172703E082-42812
chr53217276032175560E082-39955