rs13157992

Homo sapiens
C>T
EMB : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0392 (11716/29876,GnomAD)
T=0422 (12311/29118,TOPMED)
T=0414 (2071/5008,1000G)
T=0363 (1399/3854,ALSPAC)
T=0363 (1345/3708,TWINSUK)
chr5:50444074 (GRCh38.p7) (5q11.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.50444074C>T
GRCh37.p13 chr 5NC_000005.9:g.49739908C>T

Gene: EMB, embigin(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
EMB transcriptNM_198449.2:c.N/AN/A
EMB transcript variant X1XM_011543146.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.492T=0.508
1000GenomesAmericanSub694C=0.670T=0.330
1000GenomesEast AsianSub1008C=0.517T=0.483
1000GenomesEuropeSub1006C=0.669T=0.331
1000GenomesGlobalStudy-wide5008C=0.586T=0.414
1000GenomesSouth AsianSub978C=0.640T=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.637T=0.363
The Genome Aggregation DatabaseAfricanSub8682C=0.479T=0.521
The Genome Aggregation DatabaseAmericanSub834C=0.660T=0.340
The Genome Aggregation DatabaseEast AsianSub1620C=0.476T=0.524
The Genome Aggregation DatabaseEuropeSub18440C=0.676T=0.323
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.607T=0.392
The Genome Aggregation DatabaseOtherSub300C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.577T=0.422
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.637T=0.363
PMID Title Author Journal
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
rs131579920.0000903alcoholismpha002891
rs131579920.0000903alcohol dependence20201924

eQTL of rs13157992 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 rs13157992 in Fetal Brain

Probe ID Position Gene beta p-value
cg15950743chr5:49708521EMB-0.0885436949123171.5398e-35

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr54973639049737792E067-2116
chr54973639049737792E068-2116
chr54973639049737792E069-2116
chr54973585349736086E071-3822
chr54973612149736295E071-3613
chr54973639049737792E071-2116
chr54973585349736086E072-3822
chr54973612149736295E072-3613
chr54973639049737792E072-2116
chr54973639049737792E073-2116
chr54973639049737792E082-2116