rs13109195

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0074 (2226/29940,GnomAD)
C=0076 (2214/29118,TOPMED)
C=0094 (470/5008,1000G)
C=0078 (301/3854,ALSPAC)
C=0069 (254/3708,TWINSUK)
chr4:145448604 (GRCh38.p7) (4q31.21)
AD
GWASdb2
2   publication(s)
See rs on genome
29 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.145448604T>C
GRCh37.p13 chr 4NC_000004.11:g.146369756T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.900C=0.100
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.912C=0.088
1000GenomesEuropeSub1006T=0.928C=0.072
1000GenomesGlobalStudy-wide5008T=0.906C=0.094
1000GenomesSouth AsianSub978T=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.922C=0.078
The Genome Aggregation DatabaseAfricanSub8714T=0.919C=0.081
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1614T=0.918C=0.082
The Genome Aggregation DatabaseEuropeSub18472T=0.929C=0.070
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.925C=0.074
The Genome Aggregation DatabaseOtherSub302T=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.924C=0.076
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.931C=0.069
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19959123Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease.Tseng ZHHeart Rhythm

P-Value

SNP ID p-value Traits Study
rs131091950.00018alcohol dependence(early age of onset)20201924
rs131091950.00022alcohol dependence20201924

eQTL of rs13109195 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 rs13109195 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 )
chr4146405431146405608E06735675
chr4146405846146405919E06736090
chr4146414472146414566E06744716
chr4146414846146414950E06745090
chr4146415959146416043E06746203
chr4146416110146416314E06746354
chr4146326305146326355E068-43401
chr4146326356146326476E068-43280
chr4146415959146416043E06846203
chr4146416110146416314E06846354
chr4146401784146401921E06932028
chr4146414472146414566E06944716
chr4146405846146405919E07036090
chr4146408886146409074E07039130
chr4146409475146409576E07039719
chr4146414846146414950E07045090
chr4146401784146401921E07232028
chr4146405431146405608E07235675
chr4146413590146413950E07343834
chr4146326020146326161E074-43595
chr4146326305146326355E074-43401
chr4146326356146326476E074-43280
chr4146408886146409074E07439130
chr4146401520146401691E08131764
chr4146401784146401921E08132028
chr4146405431146405608E08135675
chr4146405846146405919E08136090
chr4146409626146409681E08139870
chr4146405846146405919E08236090









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4146402183146404457E06732427
chr4146404481146404609E06734725
chr4146402183146404457E06832427
chr4146404481146404609E06834725
chr4146402183146404457E06932427
chr4146404481146404609E06934725
chr4146402183146404457E07032427
chr4146404481146404609E07034725
chr4146402183146404457E07132427
chr4146404481146404609E07134725
chr4146402183146404457E07232427
chr4146404481146404609E07234725
chr4146402183146404457E07332427
chr4146404481146404609E07334725
chr4146402183146404457E07432427
chr4146404481146404609E07434725
chr4146402183146404457E08132427
chr4146404481146404609E08134725
chr4146402183146404457E08232427
chr4146404481146404609E08234725