rs2205849

Homo sapiens
T>C
SELL : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0183 (5503/29928,GnomAD)
C=0204 (5945/29118,TOPMED)
C=0245 (1228/5008,1000G)
C=0141 (545/3854,ALSPAC)
C=0134 (497/3708,TWINSUK)
chr1:169712216 (GRCh38.p7) (1q24.2)
AD
GWASdb2
3   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.169712216T>C
GRCh37.p13 chr 1NC_000001.10:g.169681357T>C
SELL RefSeqGeneNG_016132.1:g.4487A>G

Gene: SELL, selectin L(minus strand): 2KB Upstream Variant

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.729C=0.271
1000GenomesAmericanSub694T=0.720C=0.280
1000GenomesEast AsianSub1008T=0.744C=0.256
1000GenomesEuropeSub1006T=0.826C=0.174
1000GenomesGlobalStudy-wide5008T=0.755C=0.245
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.859C=0.141
The Genome Aggregation DatabaseAfricanSub8708T=0.755C=0.245
The Genome Aggregation DatabaseAmericanSub836T=0.670C=0.330
The Genome Aggregation DatabaseEast AsianSub1596T=0.750C=0.250
The Genome Aggregation DatabaseEuropeSub18486T=0.856C=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.816C=0.183
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.795C=0.204
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.866C=0.134
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
27108704Genetic polymorphisms of cell adhesion molecules in Behcet's disease in a Chinese Han population.Zheng MSci Rep
23772946Association of cell adhesion molecule gene polymorphisms with recurrent aphthous stomatitis.Alkhateeb AJ Oral Pathol Med

P-Value

SNP ID p-value Traits Study
rs22058490.000014alcoholismpha002891
rs22058490.000014alcohol dependence20201924

eQTL of rs2205849 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 rs2205849 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 )
chr1169663053169664067E071-17290
chr1169664116169664389E071-16968
chr1169661474169662757E074-18600


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E0670
chr1169680599169681493E0680
chr1169680599169681493E0690
chr1169680599169681493E0710
chr1169680599169681493E0720
chr1169680599169681493E0730
chr1169680599169681493E0740