rs10839595

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0451 (13452/29786,GnomAD)
A=0398 (11615/29118,TOPMED)
A=0427 (2139/5008,1000G)
G==0485 (1871/3854,ALSPAC)
G==0491 (1821/3708,TWINSUK)

Position: chr11:6698955 (GRCh38.p7) (11p15.4)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 70 Enhancers around

Promoter: 19 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.6698955G>A
GRCh37.p13 chr 11	NC_000011.9:g.6720186G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.729	A=0.271
1000Genomes	American	Sub	694	G=0.420	A=0.580
1000Genomes	East Asian	Sub	1008	G=0.437	A=0.563
1000Genomes	Europe	Sub	1006	G=0.555	A=0.445
1000Genomes	Global	Study-wide	5008	G=0.573	A=0.427
1000Genomes	South Asian	Sub	978	G=0.630	A=0.370
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.485	A=0.515
The Genome Aggregation Database	African	Sub	8660	G=0.679	A=0.321
The Genome Aggregation Database	American	Sub	832	G=0.440	A=0.560
The Genome Aggregation Database	East Asian	Sub	1600	G=0.408	A=0.592
The Genome Aggregation Database	Europe	Sub	18394	G=0.502	A=0.497
The Genome Aggregation Database	Global	Study-wide	29786	G=0.548	A=0.451
The Genome Aggregation Database	Other	Sub	300	G=0.640	A=0.360
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.601	A=0.398
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.491	A=0.509

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
rs10839595	0.00084	alcohol dependence	20201924

eQTL of rs10839595 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 rs10839595 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 )
chr11	6702279	6702384	E067	-17802
chr11	6702554	6702604	E067	-17582
chr11	6702658	6702720	E067	-17466
chr11	6702851	6703009	E067	-17177
chr11	6696219	6696372	E068	-23814
chr11	6725129	6725179	E068	4943
chr11	6727028	6727567	E068	6842
chr11	6702658	6702720	E069	-17466
chr11	6702851	6703009	E069	-17177
chr11	6670450	6670573	E070	-49613
chr11	6670616	6670811	E070	-49375
chr11	6670846	6670890	E070	-49296
chr11	6671256	6671315	E070	-48871
chr11	6671587	6671627	E070	-48559
chr11	6671632	6671692	E070	-48494
chr11	6671736	6671803	E070	-48383
chr11	6671908	6671979	E070	-48207
chr11	6672113	6672276	E070	-47910
chr11	6672279	6672417	E070	-47769
chr11	6672589	6672639	E070	-47547
chr11	6672648	6672738	E070	-47448
chr11	6672948	6672992	E070	-47194
chr11	6673053	6673155	E070	-47031
chr11	6673253	6673342	E070	-46844
chr11	6724629	6725050	E071	4443
chr11	6725129	6725179	E071	4943
chr11	6702554	6702604	E072	-17582
chr11	6702658	6702720	E072	-17466
chr11	6702851	6703009	E072	-17177
chr11	6702554	6702604	E073	-17582
chr11	6702658	6702720	E073	-17466
chr11	6702851	6703009	E073	-17177
chr11	6696219	6696372	E074	-23814
chr11	6724629	6725050	E074	4443
chr11	6725129	6725179	E074	4943
chr11	6670450	6670573	E081	-49613
chr11	6670616	6670811	E081	-49375
chr11	6670846	6670890	E081	-49296
chr11	6671256	6671315	E081	-48871
chr11	6671587	6671627	E081	-48559
chr11	6671632	6671692	E081	-48494
chr11	6671736	6671803	E081	-48383
chr11	6671908	6671979	E081	-48207
chr11	6672113	6672276	E081	-47910
chr11	6672279	6672417	E081	-47769
chr11	6672589	6672639	E081	-47547
chr11	6672648	6672738	E081	-47448
chr11	6672948	6672992	E081	-47194
chr11	6673053	6673155	E081	-47031
chr11	6673253	6673342	E081	-46844
chr11	6674077	6674127	E081	-46059
chr11	6674309	6674421	E081	-45765
chr11	6674450	6674628	E081	-45558
chr11	6675065	6675143	E081	-45043
chr11	6670450	6670573	E082	-49613
chr11	6670616	6670811	E082	-49375
chr11	6670846	6670890	E082	-49296
chr11	6671256	6671315	E082	-48871
chr11	6671587	6671627	E082	-48559
chr11	6671632	6671692	E082	-48494
chr11	6671736	6671803	E082	-48383
chr11	6671908	6671979	E082	-48207
chr11	6672113	6672276	E082	-47910
chr11	6672279	6672417	E082	-47769
chr11	6672589	6672639	E082	-47547
chr11	6672648	6672738	E082	-47448
chr11	6672948	6672992	E082	-47194
chr11	6702554	6702604	E082	-17582
chr11	6702658	6702720	E082	-17466
chr11	6702851	6703009	E082	-17177

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	6676841	6677989	E067	-42197
chr11	6703215	6705518	E067	-14668
chr11	6676841	6677989	E068	-42197
chr11	6703215	6705518	E068	-14668
chr11	6676841	6677989	E069	-42197
chr11	6703215	6705518	E069	-14668
chr11	6676841	6677989	E070	-42197
chr11	6703215	6705518	E070	-14668
chr11	6676841	6677989	E071	-42197
chr11	6703215	6705518	E071	-14668
chr11	6676841	6677989	E072	-42197
chr11	6703215	6705518	E072	-14668
chr11	6676841	6677989	E073	-42197
chr11	6703215	6705518	E073	-14668
chr11	6703215	6705518	E074	-14668
chr11	6676841	6677989	E081	-42197
chr11	6703215	6705518	E081	-14668
chr11	6676841	6677989	E082	-42197
chr11	6703215	6705518	E082	-14668