rs3847154

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0127 (3812/29904,GnomAD)
T=0140 (4096/29118,TOPMED)
T=0174 (872/5008,1000G)
T=0060 (231/3854,ALSPAC)
T=0048 (179/3708,TWINSUK)
chr8:100800950 (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.100800950C>T
GRCh37.p13 chr 8NC_000008.10:g.101813178C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.756T=0.244
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.712T=0.288
1000GenomesEuropeSub1006C=0.948T=0.052
1000GenomesGlobalStudy-wide5008C=0.826T=0.174
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8692C=0.762T=0.238
The Genome Aggregation DatabaseAmericanSub834C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1604C=0.685T=0.315
The Genome Aggregation DatabaseEuropeSub18474C=0.942T=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.872T=0.127
The Genome Aggregation DatabaseOtherSub300C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.859T=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.952T=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
rs38471546.61E-05alcohol consumption23743675

eQTL of rs3847154 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 rs3847154 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 )
chr8101773554101775046E068-38132
chr8101847470101848214E06834292
chr8101764400101764498E071-48680
chr8101764560101764751E071-48427
chr8101764770101764823E071-48355
chr8101803597101803661E072-9517
chr8101803758101804338E074-8840
chr8101804391101804510E074-8668
chr8101847470101848214E07434292
chr8101848259101848339E07435081
chr8101859230101859295E07446052
chr8101775773101775823E081-37355
chr8101775832101775882E081-37296
chr8101775951101776079E081-37099
chr8101803597101803661E081-9517
chr8101803758101804338E081-8840
chr8101804391101804510E081-8668
chr8101851627101851825E08138449
chr8101851845101851917E08138667
chr8101775334101775644E082-37534