rs10185448

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

COPS7B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0025 (759/29992,GnomAD)
G=0036 (1051/29118,TOPMED)
G=0038 (190/5008,1000G)
G=0003 (12/3854,ALSPAC)
G=0003 (12/3708,TWINSUK)

Position: chr2:231802592 (GRCh38.p7) (2q37.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 67 Enhancers around

Promoter: 38 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.231802592A>G
GRCh37.p13 chr 2	NC_000002.11:g.232667302A>G

Gene: COPS7B, COP9 signalosome subunit 7B(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COPS7B transcript variant 3	NM_001282949.2:c.	N/A	Intron Variant
COPS7B transcript variant 1	NM_001282950.2:c.	N/A	Intron Variant
COPS7B transcript variant 4	NM_001282951.2:c.	N/A	Intron Variant
COPS7B transcript variant 5	NM_001282952.2:c.	N/A	Intron Variant
COPS7B transcript variant 6	NM_001308381.1:c.	N/A	Intron Variant
COPS7B transcript variant 2	NM_022730.3:c.	N/A	Intron Variant
COPS7B transcript variant X1	XM_006712693.1:c.	N/A	Intron Variant
COPS7B transcript variant X4	XM_011511638.1:c.	N/A	Intron Variant
COPS7B transcript variant X5	XM_011511639.1:c.	N/A	Intron Variant
COPS7B transcript variant X6	XM_011511640.1:c.	N/A	Intron Variant
COPS7B transcript variant X2	XM_017004716.1:c.	N/A	Intron Variant
COPS7B transcript variant X8	XM_017004717.1:c.	N/A	Intron Variant
COPS7B transcript variant X3	XR_001738900.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.902	G=0.098
1000Genomes	American	Sub	694	A=0.990	G=0.010
1000Genomes	East Asian	Sub	1008	A=0.998	G=0.002
1000Genomes	Europe	Sub	1006	A=0.992	G=0.008
1000Genomes	Global	Study-wide	5008	A=0.962	G=0.038
1000Genomes	South Asian	Sub	978	A=0.960	G=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.997	G=0.003
The Genome Aggregation Database	African	Sub	8726	A=0.924	G=0.076
The Genome Aggregation Database	American	Sub	838	A=0.990	G=0.010
The Genome Aggregation Database	East Asian	Sub	1620	A=0.999	G=0.001
The Genome Aggregation Database	Europe	Sub	18506	A=0.995	G=0.004
The Genome Aggregation Database	Global	Study-wide	29992	A=0.974	G=0.025
The Genome Aggregation Database	Other	Sub	302	A=1.000	G=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.963	G=0.036
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.997	G=0.003

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
rs10185448	0.000972	alcohol dependence	20201924

eQTL of rs10185448 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 rs10185448 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 )
chr2	232629315	232629375	E067	-37927
chr2	232629601	232629810	E067	-37492
chr2	232629897	232629956	E067	-37346
chr2	232630292	232630541	E067	-36761
chr2	232644661	232644719	E067	-22583
chr2	232649358	232649398	E067	-17904
chr2	232652308	232652348	E067	-14954
chr2	232652617	232652688	E067	-14614
chr2	232657631	232657819	E067	-9483
chr2	232658534	232658589	E067	-8713
chr2	232629315	232629375	E068	-37927
chr2	232629601	232629810	E068	-37492
chr2	232629897	232629956	E068	-37346
chr2	232630292	232630541	E068	-36761
chr2	232631223	232631267	E068	-36035
chr2	232649358	232649398	E068	-17904
chr2	232649945	232650009	E068	-17293
chr2	232652617	232652688	E068	-14614
chr2	232653747	232653791	E068	-13511
chr2	232657631	232657819	E068	-9483
chr2	232629315	232629375	E069	-37927
chr2	232629601	232629810	E069	-37492
chr2	232629897	232629956	E069	-37346
chr2	232630292	232630541	E069	-36761
chr2	232644661	232644719	E069	-22583
chr2	232649945	232650009	E069	-17293
chr2	232652308	232652348	E069	-14954
chr2	232657631	232657819	E069	-9483
chr2	232629601	232629810	E070	-37492
chr2	232629897	232629956	E070	-37346
chr2	232630292	232630541	E070	-36761
chr2	232629315	232629375	E071	-37927
chr2	232629601	232629810	E071	-37492
chr2	232629897	232629956	E071	-37346
chr2	232630292	232630541	E071	-36761
chr2	232631223	232631267	E071	-36035
chr2	232644661	232644719	E071	-22583
chr2	232649358	232649398	E071	-17904
chr2	232649945	232650009	E071	-17293
chr2	232652308	232652348	E071	-14954
chr2	232629315	232629375	E072	-37927
chr2	232629601	232629810	E072	-37492
chr2	232629897	232629956	E072	-37346
chr2	232630292	232630541	E072	-36761
chr2	232631223	232631267	E072	-36035
chr2	232657631	232657819	E072	-9483
chr2	232629315	232629375	E073	-37927
chr2	232629601	232629810	E073	-37492
chr2	232629897	232629956	E073	-37346
chr2	232630292	232630541	E073	-36761
chr2	232644661	232644719	E073	-22583
chr2	232652308	232652348	E073	-14954
chr2	232652617	232652688	E073	-14614
chr2	232653747	232653791	E073	-13511
chr2	232655943	232656224	E073	-11078
chr2	232629315	232629375	E074	-37927
chr2	232629601	232629810	E074	-37492
chr2	232629897	232629956	E074	-37346
chr2	232630292	232630541	E074	-36761
chr2	232631223	232631267	E074	-36035
chr2	232644661	232644719	E074	-22583
chr2	232649358	232649398	E074	-17904
chr2	232652308	232652348	E074	-14954
chr2	232652617	232652688	E074	-14614
chr2	232644661	232644719	E081	-22583
chr2	232652617	232652688	E081	-14614
chr2	232652308	232652348	E082	-14954

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	232645317	232645433	E067	-21869
chr2	232645435	232645515	E067	-21787
chr2	232645526	232647349	E067	-19953
chr2	232650578	232651774	E067	-15528
chr2	232645317	232645433	E068	-21869
chr2	232645435	232645515	E068	-21787
chr2	232645526	232647349	E068	-19953
chr2	232650578	232651774	E068	-15528
chr2	232645317	232645433	E069	-21869
chr2	232645435	232645515	E069	-21787
chr2	232645526	232647349	E069	-19953
chr2	232650578	232651774	E069	-15528
chr2	232645317	232645433	E070	-21869
chr2	232645435	232645515	E070	-21787
chr2	232645526	232647349	E070	-19953
chr2	232650578	232651774	E070	-15528
chr2	232645317	232645433	E071	-21869
chr2	232645435	232645515	E071	-21787
chr2	232645526	232647349	E071	-19953
chr2	232650578	232651774	E071	-15528
chr2	232645317	232645433	E072	-21869
chr2	232645435	232645515	E072	-21787
chr2	232645526	232647349	E072	-19953
chr2	232650578	232651774	E072	-15528
chr2	232645317	232645433	E073	-21869
chr2	232645435	232645515	E073	-21787
chr2	232645526	232647349	E073	-19953
chr2	232650578	232651774	E073	-15528
chr2	232645317	232645433	E074	-21869
chr2	232645435	232645515	E074	-21787
chr2	232645526	232647349	E074	-19953
chr2	232650578	232651774	E074	-15528
chr2	232645526	232647349	E081	-19953
chr2	232650578	232651774	E081	-15528
chr2	232645317	232645433	E082	-21869
chr2	232645435	232645515	E082	-21787
chr2	232645526	232647349	E082	-19953
chr2	232650578	232651774	E082	-15528