rs2036902

Homo sapiens
A>G
EMB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0392 (11701/29844,GnomAD)
G=0422 (12304/29118,TOPMED)
G=0411 (2060/5008,1000G)
G=0364 (1402/3854,ALSPAC)
G=0363 (1347/3708,TWINSUK)
chr5:50401098 (GRCh38.p7) (5q11.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.50401098A>G
GRCh37.p13 chr 5NC_000005.9:g.49696932A>G

Gene: EMB, embigin(minus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.490G=0.510
1000GenomesAmericanSub694A=0.670G=0.330
1000GenomesEast AsianSub1008A=0.528G=0.472
1000GenomesEuropeSub1006A=0.669G=0.331
1000GenomesGlobalStudy-wide5008A=0.589G=0.411
1000GenomesSouth AsianSub978A=0.640G=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.636G=0.364
The Genome Aggregation DatabaseAfricanSub8706A=0.479G=0.521
The Genome Aggregation DatabaseAmericanSub834A=0.660G=0.340
The Genome Aggregation DatabaseEast AsianSub1560A=0.485G=0.515
The Genome Aggregation DatabaseEuropeSub18442A=0.675G=0.324
The Genome Aggregation DatabaseGlobalStudy-wide29844A=0.607G=0.392
The Genome Aggregation DatabaseOtherSub302A=0.680G=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.577G=0.422
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.637G=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
rs20369020.0000988alcoholismpha002891
rs20369020.0000988alcohol dependence20201924

eQTL of rs2036902 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 rs2036902 in Fetal Brain

Probe ID Position Gene beta p-value
cg15950743chr5:49708521EMB-0.08738607754185372.8261e-34

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)
chr54973639049737792E06739458
chr54973639049737792E06839458
chr54973639049737792E06939458
chr54973585349736086E07138921
chr54973612149736295E07139189
chr54973639049737792E07139458
chr54973585349736086E07238921
chr54973612149736295E07239189
chr54973639049737792E07239458
chr54973639049737792E07339458
chr54973639049737792E08239458