rs12295136

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0092 (2780/29982,GnomAD)
C=0122 (3556/29118,TOPMED)
C=0082 (413/5008,1000G)
C=0039 (151/3854,ALSPAC)
C=0039 (146/3708,TWINSUK)
chr11:34428914 (GRCh38.p7) (11p13)
AD
GWASdb2
2   publication(s)
See rs on genome
15 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34428914T>C
GRCh37.p13 chr 11NC_000011.9:g.34450461T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.753C=0.247
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.956C=0.044
1000GenomesGlobalStudy-wide5008T=0.918C=0.082
1000GenomesSouth AsianSub978T=0.980C=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.961C=0.039
The Genome Aggregation DatabaseAfricanSub8722T=0.775C=0.225
The Genome Aggregation DatabaseAmericanSub838T=0.970C=0.030
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18498T=0.958C=0.041
The Genome Aggregation DatabaseGlobalStudy-wide29982T=0.907C=0.092
The Genome Aggregation DatabaseOtherSub302T=0.910C=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.877C=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.961C=0.039
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
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
rs122951360.0000945alcohol dependence21703634
rs122951360.00081alcohol dependence20201924

eQTL of rs12295136 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 rs12295136 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 )
chr113446431934464369E06813858
chr113447611334476163E06825652
chr113447632034476483E06825859
chr113447658534477021E06826124
chr113442882134429256E069-21205
chr113442933034429448E069-21013
chr113446979334469875E06919332
chr113446994634470013E06919485
chr113442933034429448E071-21013
chr113442882134429256E072-21205
chr113442933034429448E072-21013
chr113446431934464369E07313858
chr113442882134429256E074-21205
chr113442933034429448E074-21013
chr113446252734462567E08212066







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr113445971234461758E0679251
chr113445957034459620E0689109
chr113445971234461758E0689251
chr113445957034459620E0699109
chr113445971234461758E0699251
chr113445957034459620E0709109
chr113445971234461758E0709251
chr113445971234461758E0719251
chr113445957034459620E0729109
chr113445971234461758E0729251
chr113445957034459620E0739109
chr113445971234461758E0739251
chr113445971234461758E0749251
chr113445971234461758E0819251
chr113445957034459620E0829109
chr113445971234461758E0829251