rs4703116

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0366 (10951/29922,GnomAD)
C=0389 (11331/29118,TOPMED)
C=0342 (1712/5008,1000G)
C=0345 (1331/3854,ALSPAC)
C=0352 (1304/3708,TWINSUK)
chr5:100793209 (GRCh38.p7) (5q21.1)
AD
GWASdb2
2   publication(s)
See rs on genome
36 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.100793209T>C
GRCh37.p13 chr 5NC_000005.9:g.100128913T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.519C=0.481
1000GenomesAmericanSub694T=0.560C=0.440
1000GenomesEast AsianSub1008T=0.803C=0.197
1000GenomesEuropeSub1006T=0.681C=0.319
1000GenomesGlobalStudy-wide5008T=0.658C=0.342
1000GenomesSouth AsianSub978T=0.740C=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.655C=0.345
The Genome Aggregation DatabaseAfricanSub8700T=0.568C=0.432
The Genome Aggregation DatabaseAmericanSub836T=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1620T=0.833C=0.167
The Genome Aggregation DatabaseEuropeSub18464T=0.647C=0.352
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.634C=0.366
The Genome Aggregation DatabaseOtherSub302T=0.750C=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.610C=0.389
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.648C=0.352
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21424381Identification of QTL genes for BMD variation using both linkage and gene-based association approaches.Li GHHum Genet

P-Value

SNP ID p-value Traits Study
rs47031160.0006alcohol dependence20201924

eQTL of rs4703116 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 rs4703116 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 )
chr5100163170100163629E06734257
chr5100163664100163848E06734751
chr5100163894100164123E06734981
chr5100164267100164317E06735354
chr5100163170100163629E06834257
chr5100125570100126393E069-2520
chr5100164601100164733E06935688
chr5100164888100164938E06935975
chr5100082554100082694E070-46219
chr5100083342100083396E070-45517
chr5100107751100107847E070-21066
chr5100107935100107999E070-20914
chr5100108296100108795E070-20118
chr5100163170100163629E07034257
chr5100163664100163848E07034751
chr5100163894100164123E07034981
chr5100164267100164317E07035354
chr5100164601100164733E07035688
chr5100164888100164938E07035975
chr5100139173100139383E07110260
chr5100163170100163629E07134257
chr5100164267100164317E07135354
chr5100164267100164317E07235354
chr5100164601100164733E07235688
chr5100164888100164938E07235975
chr5100163170100163629E07334257
chr5100125570100126393E074-2520
chr5100164267100164317E07435354
chr5100164601100164733E07435688
chr5100164888100164938E07435975
chr5100085760100085867E082-43046
chr5100085987100086148E082-42765
chr5100163170100163629E08234257
chr5100163664100163848E08234751
chr5100163894100164123E08234981
chr5100164267100164317E08235354