rs2179545

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0489 (14646/29940,GnomAD)
C=0468 (13638/29118,TOPMED)
C=0445 (2227/5008,1000G)
T==0411 (1583/3854,ALSPAC)
T==0424 (1574/3708,TWINSUK)
chr6:53597167 (GRCh38.p7) (6p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.53597167T>C
GRCh37.p13 chr 6NC_000006.11:g.53461965T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.669C=0.331
1000GenomesAmericanSub694T=0.390C=0.610
1000GenomesEast AsianSub1008T=0.591C=0.409
1000GenomesEuropeSub1006T=0.424C=0.576
1000GenomesGlobalStudy-wide5008T=0.555C=0.445
1000GenomesSouth AsianSub978T=0.620C=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.411C=0.589
The Genome Aggregation DatabaseAfricanSub8716T=0.651C=0.349
The Genome Aggregation DatabaseAmericanSub836T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1618T=0.616C=0.384
The Genome Aggregation DatabaseEuropeSub18468T=0.404C=0.595
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.489C=0.510
The Genome Aggregation DatabaseOtherSub302T=0.500C=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.531C=0.468
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.424C=0.576
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
rs21795450.000473alcohol dependence20201924

eQTL of rs2179545 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 rs2179545 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 )
chr65345332753453551E067-8414
chr65345368653453761E067-8204
chr65345405753454182E067-7783
chr65349973353499969E06737768
chr65344733153447466E068-14499
chr65344752253447622E068-14343
chr65345332753453551E068-8414
chr65345368653453761E068-8204
chr65345405753454182E068-7783
chr65346703453467103E0685069
chr65349230953492397E06830344
chr65349304453494216E06831079
chr65350833853508410E06846373
chr65345332753453551E069-8414
chr65350833853508410E06946373
chr65345368653453761E071-8204
chr65345405753454182E071-7783
chr65349253753492958E07130572
chr65349304453494216E07131079
chr65349655053496697E07134585
chr65349973353499969E07137768
chr65350833853508410E07146373
chr65349973353499969E07237768
chr65350833853508410E07246373
chr65349304453494216E07431079
chr65349973353499969E07437768
chr65350833853508410E07446373






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr65341223753413663E067-48302
chr65341223753413663E068-48302
chr65350006953500518E06838104
chr65341223753413663E069-48302
chr65350006953500518E06938104
chr65341223753413663E070-48302
chr65341223753413663E071-48302
chr65350006953500518E07138104
chr65341223753413663E072-48302
chr65350006953500518E07238104
chr65341223753413663E073-48302
chr65341223753413663E074-48302
chr65341223753413663E081-48302
chr65341223753413663E082-48302