rs4786

Homo sapiens
T>C
SELE : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0360 (10776/29910,GnomAD)
C=0391 (11409/29118,TOPMED)
C=0477 (2388/5008,1000G)
C=0255 (981/3854,ALSPAC)
C=0243 (901/3708,TWINSUK)
chr1:169722991 (GRCh38.p7) (1q24.2)
AD
GWASdb2
5   publication(s)
See rs on genome
3 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.169722991T>C
GRCh37.p13 chr 1NC_000001.10:g.169692132T>C
SELE RefSeqGeneNG_012124.1:g.16089A>G

Gene: SELE, selectin E(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SELE transcriptNM_000450.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.435C=0.565
1000GenomesAmericanSub694T=0.580C=0.420
1000GenomesEast AsianSub1008T=0.436C=0.564
1000GenomesEuropeSub1006T=0.701C=0.299
1000GenomesGlobalStudy-wide5008T=0.523C=0.477
1000GenomesSouth AsianSub978T=0.510C=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.745C=0.255
The Genome Aggregation DatabaseAfricanSub8694T=0.489C=0.511
The Genome Aggregation DatabaseAmericanSub836T=0.550C=0.450
The Genome Aggregation DatabaseEast AsianSub1604T=0.466C=0.534
The Genome Aggregation DatabaseEuropeSub18474T=0.729C=0.270
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.639C=0.360
The Genome Aggregation DatabaseOtherSub302T=0.670C=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.608C=0.391
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.757C=0.243
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19996987Blood pressure response to potassium supplementation is associated with genetic variation in endothelin 1 and interactions with E selectin in rural Chinese.Montasser MEJ Hypertens
21521525Evaluation of variants in the selectin genes in age-related macular degeneration.Mullins RFBMC Med Genet
21881522Association of ATP1B1, RGS5 and SELE polymorphisms with hypertension and blood pressure in African-Americans.Faruque MUJ Hypertens
20416077Identification of type 2 diabetes-associated combination of SNPs using support vector machine.Ban HJBMC Genet

P-Value

SNP ID p-value Traits Study
rs47860.000121alcohol dependence20201924

eQTL of rs4786 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:169692132RN7SL333PENSG00000239494.2T>C3.6310e-3-136765Cerebellar_Hemisphere

meQTL of rs4786 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 )
chr1169663053169664067E071-28065
chr1169664116169664389E071-27743
chr1169661474169662757E074-29375


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E067-10639
chr1169680599169681493E068-10639
chr1169680599169681493E069-10639
chr1169680599169681493E071-10639
chr1169680599169681493E072-10639
chr1169680599169681493E073-10639
chr1169680599169681493E074-10639