rs2205847

Homo sapiens
G>T
SELL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0258 (7739/29896,GnomAD)
T=0272 (7927/29118,TOPMED)
T=0299 (1495/5008,1000G)
T=0241 (929/3854,ALSPAC)
T=0231 (855/3708,TWINSUK)
chr1:169707082 (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.169707082G>T
GRCh37.p13 chr 1NC_000001.10:g.169676223G>T
SELL RefSeqGeneNG_016132.1:g.9621C>A

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/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.703T=0.297
1000GenomesAmericanSub694G=0.660T=0.340
1000GenomesEast AsianSub1008G=0.735T=0.265
1000GenomesEuropeSub1006G=0.728T=0.272
1000GenomesGlobalStudy-wide5008G=0.701T=0.299
1000GenomesSouth AsianSub978G=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.759T=0.241
The Genome Aggregation DatabaseAfricanSub8706G=0.719T=0.281
The Genome Aggregation DatabaseAmericanSub834G=0.620T=0.380
The Genome Aggregation DatabaseEast AsianSub1598G=0.741T=0.259
The Genome Aggregation DatabaseEuropeSub18456G=0.758T=0.241
The Genome Aggregation DatabaseGlobalStudy-wide29896G=0.741T=0.258
The Genome Aggregation DatabaseOtherSub302G=0.690T=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.727T=0.272
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.769T=0.231
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
rs22058470.000194alcohol dependence20201924

eQTL of rs2205847 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:169676223RN7SL333PENSG00000239494.2G>T3.6310e-3-152674Cerebellar_Hemisphere

meQTL of rs2205847 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 )
chr1169663053169664067E071-12156
chr1169664116169664389E071-11834
chr1169661474169662757E074-13466


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E0674376
chr1169680599169681493E0684376
chr1169680599169681493E0694376
chr1169680599169681493E0714376
chr1169680599169681493E0724376
chr1169680599169681493E0734376
chr1169680599169681493E0744376