SNP Detail Info-rs1051091

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SELL : Synonymous Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0284 (34156/119964,ExAC)
G=0259 (7757/29908,GnomAD)
G=0272 (7943/29118,TOPMED)
A==0249 (3095/12394,GO-ESP)
G=0300 (1503/5008,1000G)
G=0241 (929/3854,ALSPAC)
G=0229 (850/3708,TWINSUK)

Position: chr1:169708568 (GRCh38.p7) (1q24.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 7 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.169708568A>G
GRCh37.p13 chr 1	NC_000001.10:g.169677709A>G
SELL RefSeqGene	NG_016132.1:g.8135T>C

Gene: SELL, selectin L(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SELL transcript variant 1	NM_000655.4:c.360T>C	L [CTT]> L [CTC]	Coding Sequence Variant
L-selectin precursor	NP_000646.2:p.Leu...NP_000646.2:p.Leu120=	L [Leu]> L [Leu]	Synonymous Variant
SELL transcript variant 2	NR_029467.1:n.289T>C	T>C	Non Coding Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.703	G=0.297
1000Genomes	American	Sub	694	A=0.660	G=0.340
1000Genomes	East Asian	Sub	1008	A=0.732	G=0.268
1000Genomes	Europe	Sub	1006	A=0.728	G=0.272
1000Genomes	Global	Study-wide	5008	A=0.700	G=0.300
1000Genomes	South Asian	Sub	978	A=0.660	G=0.340
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.759	G=0.241
The Exome Aggregation Consortium	American	Sub	21106	A=0.649	G=0.350
The Exome Aggregation Consortium	Asian	Sub	25010	A=0.687	G=0.312
The Exome Aggregation Consortium	Europe	Sub	72952	A=0.743	G=0.256
The Exome Aggregation Consortium	Global	Study-wide	119964	A=0.715	G=0.284
The Exome Aggregation Consortium	Other	Sub	896	A=0.700	G=0.300
The Genome Aggregation Database	African	Sub	8714	A=0.716	G=0.284
The Genome Aggregation Database	American	Sub	834	A=0.620	G=0.380
The Genome Aggregation Database	East Asian	Sub	1594	A=0.741	G=0.259
The Genome Aggregation Database	Europe	Sub	18464	A=0.758	G=0.241
The Genome Aggregation Database	Global	Study-wide	29908	A=0.740	G=0.259
The Genome Aggregation Database	Other	Sub	302	A=0.690	G=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.727	G=0.272
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.771	G=0.229

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs1051091	0.000211	alcohol dependence	20201924

eQTL of rs1051091 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:169677709	RN7SL333P	ENSG00000239494.2	A>G	3.6310e-3	-151188	Cerebellar_Hemisphere

meQTL of rs1051091 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	169663053	169664067	E071	-13642
chr1	169664116	169664389	E071	-13320
chr1	169661474	169662757	E074	-14952

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	169680599	169681493	E067	2890
chr1	169680599	169681493	E068	2890
chr1	169680599	169681493	E069	2890
chr1	169680599	169681493	E071	2890
chr1	169680599	169681493	E072	2890
chr1	169680599	169681493	E073	2890
chr1	169680599	169681493	E074	2890

rs1051091

Genomic Coordinates

Gene: SELL, selectin L(minus strand)

Population Frequency

P-Value

eQTL of rs1051091 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1051091 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)