rs7566288

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0239 (7179/29946,GnomAD)
T=0243 (7084/29118,TOPMED)
T=0200 (1003/5008,1000G)
T=0252 (972/3854,ALSPAC)
T=0249 (925/3708,TWINSUK)

Position: chr2:202064217 (GRCh38.p7) (2q33.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 48 Enhancers around

Promoter: 19 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.202064217G>T
GRCh37.p13 chr 2	NC_000002.11:g.202928940G>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.791	T=0.209
1000Genomes	American	Sub	694	G=0.800	T=0.200
1000Genomes	East Asian	Sub	1008	G=0.789	T=0.211
1000Genomes	Europe	Sub	1006	G=0.758	T=0.242
1000Genomes	Global	Study-wide	5008	G=0.800	T=0.200
1000Genomes	South Asian	Sub	978	G=0.870	T=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.748	T=0.252
The Genome Aggregation Database	African	Sub	8704	G=0.784	T=0.216
The Genome Aggregation Database	American	Sub	836	G=0.830	T=0.170
The Genome Aggregation Database	East Asian	Sub	1620	G=0.800	T=0.200
The Genome Aggregation Database	Europe	Sub	18484	G=0.742	T=0.257
The Genome Aggregation Database	Global	Study-wide	29946	G=0.760	T=0.239
The Genome Aggregation Database	Other	Sub	302	G=0.750	T=0.250
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.756	T=0.243
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.751	T=0.249

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs7566288	8.9E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs7566288 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 rs7566288 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	202928620	202930018	E067	0
chr2	202928620	202930018	E068	0
chr2	202930087	202930137	E068	1147
chr2	202949066	202949380	E068	20126
chr2	202928620	202930018	E069	0
chr2	202948691	202948813	E069	19751
chr2	202949066	202949380	E069	20126
chr2	202974470	202974994	E069	45530
chr2	202887632	202887780	E070	-41160
chr2	202887813	202889278	E070	-39662
chr2	202928620	202930018	E070	0
chr2	202930087	202930137	E070	1147
chr2	202937334	202937422	E070	8394
chr2	202937583	202937767	E070	8643
chr2	202937869	202938071	E070	8929
chr2	202928620	202930018	E071	0
chr2	202948691	202948813	E071	19751
chr2	202949066	202949380	E071	20126
chr2	202955371	202955514	E071	26431
chr2	202956239	202956585	E071	27299
chr2	202956633	202956689	E071	27693
chr2	202928620	202930018	E072	0
chr2	202948691	202948813	E073	19751
chr2	202949066	202949380	E073	20126
chr2	202948691	202948813	E074	19751
chr2	202949066	202949380	E074	20126
chr2	202955371	202955514	E074	26431
chr2	202928620	202930018	E081	0
chr2	202937583	202937767	E081	8643
chr2	202937869	202938071	E081	8929
chr2	202973765	202973819	E081	44825
chr2	202974018	202974139	E081	45078
chr2	202974470	202974994	E081	45530
chr2	202975187	202975528	E081	46247
chr2	202975615	202975694	E081	46675
chr2	202887505	202887589	E082	-41351
chr2	202887632	202887780	E082	-41160
chr2	202887813	202889278	E082	-39662
chr2	202904870	202905036	E082	-23904
chr2	202905103	202905147	E082	-23793
chr2	202905362	202905425	E082	-23515
chr2	202905538	202905698	E082	-23242
chr2	202928620	202930018	E082	0
chr2	202937583	202937767	E082	8643
chr2	202949066	202949380	E082	20126
chr2	202974470	202974994	E082	45530
chr2	202975187	202975528	E082	46247
chr2	202975615	202975694	E082	46675

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	202896675	202899860	E067	-29080
chr2	202896675	202899860	E068	-29080
chr2	202899861	202902248	E068	-26692
chr2	202902458	202902517	E068	-26423
chr2	202939188	202939304	E068	10248
chr2	202896675	202899860	E069	-29080
chr2	202896675	202899860	E071	-29080
chr2	202899861	202902248	E071	-26692
chr2	202896675	202899860	E072	-29080
chr2	202896675	202899860	E073	-29080
chr2	202896675	202899860	E074	-29080
chr2	202902458	202902517	E081	-26423
chr2	202902851	202902906	E081	-26034
chr2	202902984	202903028	E081	-25912
chr2	202896675	202899860	E082	-29080
chr2	202899861	202902248	E082	-26692
chr2	202902458	202902517	E082	-26423
chr2	202902851	202902906	E082	-26034
chr2	202902984	202903028	E082	-25912