rs4987285

Homo sapiens
T>C
SELL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0287 (8599/29882,GnomAD)
C=0307 (8950/29118,TOPMED)
C=0358 (1795/5008,1000G)
C=0252 (973/3854,ALSPAC)
C=0241 (894/3708,TWINSUK)
chr1:169708883 (GRCh38.p7) (1q24.2)
AD
GWASdb2
1   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.169708883T>C
GRCh37.p13 chr 1NC_000001.10:g.169678024T>C
SELL RefSeqGeneNG_016132.1:g.7820A>G

Gene: SELL, selectin L(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SELL transcript variant 1NM_000655.4:c.N/AIntron Variant
SELL transcript variant 2NR_029467.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.633C=0.367
1000GenomesAmericanSub694T=0.640C=0.360
1000GenomesEast AsianSub1008T=0.671C=0.329
1000GenomesEuropeSub1006T=0.713C=0.287
1000GenomesGlobalStudy-wide5008T=0.642C=0.358
1000GenomesSouth AsianSub978T=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.748C=0.252
The Genome Aggregation DatabaseAfricanSub8702T=0.663C=0.337
The Genome Aggregation DatabaseAmericanSub834T=0.600C=0.400
The Genome Aggregation DatabaseEast AsianSub1582T=0.658C=0.342
The Genome Aggregation DatabaseEuropeSub18462T=0.745C=0.254
The Genome Aggregation DatabaseGlobalStudy-wide29882T=0.712C=0.287
The Genome Aggregation DatabaseOtherSub302T=0.680C=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.692C=0.307
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.759C=0.241
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
rs49872850.00006alcoholismpha002891
rs49872850.00006alcohol dependence20201924

eQTL of rs4987285 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:169678024RN7SL333PENSG00000239494.2T>C3.6310e-3-150873Cerebellar_Hemisphere

meQTL of rs4987285 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 )
chr1169663053169664067E071-13957
chr1169664116169664389E071-13635
chr1169661474169662757E074-15267


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E0672575
chr1169680599169681493E0682575
chr1169680599169681493E0692575
chr1169680599169681493E0712575
chr1169680599169681493E0722575
chr1169680599169681493E0732575
chr1169680599169681493E0742575