rs7595950

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0453 (13481/29710,GnomAD)
C=0397 (11568/29116,TOPMED)
C=0400 (2001/5008,1000G)
T==0495 (1908/3854,ALSPAC)
C=0496 (1840/3708,TWINSUK)
chr2:59916057 (GRCh38.p7) (2p16.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
37 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59916057T>C
GRCh37.p13 chr 2NC_000002.11:g.60143192T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.790C=0.210
1000GenomesAmericanSub694T=0.450C=0.550
1000GenomesEast AsianSub1008T=0.649C=0.351
1000GenomesEuropeSub1006T=0.507C=0.493
1000GenomesGlobalStudy-wide5008T=0.600C=0.400
1000GenomesSouth AsianSub978T=0.500C=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.495C=0.505
The Genome Aggregation DatabaseAfricanSub8668T=0.724C=0.276
The Genome Aggregation DatabaseAmericanSub828T=0.440C=0.560
The Genome Aggregation DatabaseEast AsianSub1610T=0.658C=0.342
The Genome Aggregation DatabaseEuropeSub18302T=0.457C=0.542
The Genome Aggregation DatabaseGlobalStudy-wide29710T=0.546C=0.453
The Genome Aggregation DatabaseOtherSub302T=0.520C=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.602C=0.397
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.504C=0.496
PMID Title Author Journal
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry

P-Value

SNP ID p-value Traits Study
rs75959503E-06alcohol dependence29071344

eQTL of rs7595950 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 rs7595950 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 )
chr26010217660102341E070-40851
chr26010239460102484E070-40708
chr26010275760102940E070-40252
chr26011256160112649E070-30543
chr26011271560113057E070-30135
chr26011315560113255E070-29937
chr26011395960114192E070-29000
chr26013192060131960E070-11232
chr26011256160112649E081-30543
chr26011271560113057E081-30135
chr26011315560113255E081-29937
chr26011395960114192E081-29000
chr26013725760137822E081-5370
chr26013862860138710E081-4482
chr26013925060139460E081-3732
chr26015234960152789E0819157
chr26015284260152917E0819650
chr26015293160153080E0819739
chr26015347260153663E08110280
chr26015371660153766E08110524
chr26015438860154459E08111196
chr26010150160101761E082-41431
chr26010217660102341E082-40851
chr26013192060131960E082-11232
chr26013661760136689E082-6503
chr26013685760136909E082-6283
chr26013698360137115E082-6077
chr26013725760137822E082-5370
chr26013862860138710E082-4482
chr26013925060139460E082-3732
chr26015160860151790E0828416
chr26015200060152104E0828808
chr26015234960152789E0829157
chr26015284260152917E0829650
chr26015293160153080E0829739
chr26015347260153663E08210280
chr26015371660153766E08210524



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr26016335760163491E06720165
chr26016335760163491E06820165
chr26016335760163491E06920165
chr26016335760163491E07120165
chr26016335760163491E07420165