rs3847153

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0127 (3809/29882,GnomAD)
G=0140 (4094/29118,TOPMED)
G=0174 (872/5008,1000G)
G=0060 (231/3854,ALSPAC)
G=0048 (179/3708,TWINSUK)
chr8:100800928 (GRCh38.p7) (8q22.3)
AD
GWASdb2
2   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.100800928A>G
GRCh37.p13 chr 8NC_000008.10:g.101813156A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.756G=0.244
1000GenomesAmericanSub694A=0.800G=0.200
1000GenomesEast AsianSub1008A=0.712G=0.288
1000GenomesEuropeSub1006A=0.948G=0.052
1000GenomesGlobalStudy-wide5008A=0.826G=0.174
1000GenomesSouth AsianSub978A=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.940G=0.060
The Genome Aggregation DatabaseAfricanSub8682A=0.762G=0.238
The Genome Aggregation DatabaseAmericanSub836A=0.800G=0.200
The Genome Aggregation DatabaseEast AsianSub1606A=0.687G=0.313
The Genome Aggregation DatabaseEuropeSub18456A=0.942G=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29882A=0.872G=0.127
The Genome Aggregation DatabaseOtherSub302A=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.859G=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.952G=0.048
PMID Title Author Journal
21989058Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).Qin YHum Mol Genet
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs38471535.46E-05alcohol consumption23743675

eQTL of rs3847153 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 rs3847153 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 )
chr8101773554101775046E068-38110
chr8101847470101848214E06834314
chr8101764400101764498E071-48658
chr8101764560101764751E071-48405
chr8101764770101764823E071-48333
chr8101803597101803661E072-9495
chr8101803758101804338E074-8818
chr8101804391101804510E074-8646
chr8101847470101848214E07434314
chr8101848259101848339E07435103
chr8101859230101859295E07446074
chr8101775773101775823E081-37333
chr8101775832101775882E081-37274
chr8101775951101776079E081-37077
chr8101803597101803661E081-9495
chr8101803758101804338E081-8818
chr8101804391101804510E081-8646
chr8101851627101851825E08138471
chr8101851845101851917E08138689
chr8101775334101775644E082-37512