rs8108021

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0355 (10633/29922,GnomAD)
A==0427 (12436/29118,TOPMED)
A==0462 (2314/5008,1000G)
A==0161 (619/3854,ALSPAC)
A==0163 (603/3708,TWINSUK)

Position: chr19:44091269 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 81 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44091269A>G
GRCh37.p13 chr 19	NC_000019.9:g.44595422A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.752	G=0.248
1000Genomes	American	Sub	694	A=0.490	G=0.510
1000Genomes	East Asian	Sub	1008	A=0.475	G=0.525
1000Genomes	Europe	Sub	1006	A=0.191	G=0.809
1000Genomes	Global	Study-wide	5008	A=0.462	G=0.538
1000Genomes	South Asian	Sub	978	A=0.310	G=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.161	G=0.839
The Genome Aggregation Database	African	Sub	8702	A=0.665	G=0.335
The Genome Aggregation Database	American	Sub	832	A=0.500	G=0.500
The Genome Aggregation Database	East Asian	Sub	1616	A=0.455	G=0.545
The Genome Aggregation Database	Europe	Sub	18472	A=0.196	G=0.803
The Genome Aggregation Database	Global	Study-wide	29922	A=0.355	G=0.644
The Genome Aggregation Database	Other	Sub	300	A=0.230	G=0.770
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.427	G=0.572
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.163	G=0.837

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs8108021	6.22E-05	alcohol consumption	23743675

eQTL of rs8108021 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44595422	ZNF284	ENSG00000186026.6	A>G	6.4241e-4	19125	Cerebellum
Chr19:44595422	ZNF284	ENSG00000186026.6	A>G	8.0274e-4	19125	Cerebellar_Hemisphere

meQTL of rs8108021 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 )
chr19	44557486	44557536	E067	-37886
chr19	44557486	44557536	E068	-37886
chr19	44618883	44619034	E068	23461
chr19	44600148	44600194	E069	4726
chr19	44557933	44557994	E070	-37428
chr19	44600148	44600194	E070	4726
chr19	44618883	44619034	E070	23461
chr19	44619037	44619091	E070	23615
chr19	44619125	44619165	E070	23703
chr19	44618883	44619034	E071	23461
chr19	44557486	44557536	E081	-37886
chr19	44557486	44557536	E082	-37886
chr19	44600816	44600930	E082	5394

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44554793	44554904	E067	-40518
chr19	44554948	44556685	E067	-38737
chr19	44556731	44556943	E067	-38479
chr19	44575419	44575610	E067	-19812
chr19	44575642	44577153	E067	-18269
chr19	44598047	44599722	E067	2625
chr19	44615925	44616789	E067	20503
chr19	44616806	44618482	E067	21384
chr19	44554948	44556685	E068	-38737
chr19	44556731	44556943	E068	-38479
chr19	44575419	44575610	E068	-19812
chr19	44575642	44577153	E068	-18269
chr19	44597812	44597885	E068	2390
chr19	44597935	44597989	E068	2513
chr19	44598047	44599722	E068	2625
chr19	44615787	44615827	E068	20365
chr19	44615925	44616789	E068	20503
chr19	44616806	44618482	E068	21384
chr19	44644743	44644803	E068	49321
chr19	44554948	44556685	E069	-38737
chr19	44556731	44556943	E069	-38479
chr19	44575419	44575610	E069	-19812
chr19	44575642	44577153	E069	-18269
chr19	44598047	44599722	E069	2625
chr19	44615787	44615827	E069	20365
chr19	44615925	44616789	E069	20503
chr19	44616806	44618482	E069	21384
chr19	44554948	44556685	E070	-38737
chr19	44556731	44556943	E070	-38479
chr19	44575419	44575610	E070	-19812
chr19	44575642	44577153	E070	-18269
chr19	44598047	44599722	E070	2625
chr19	44615925	44616789	E070	20503
chr19	44616806	44618482	E070	21384
chr19	44644743	44644803	E070	49321
chr19	44554948	44556685	E071	-38737
chr19	44556731	44556943	E071	-38479
chr19	44575419	44575610	E071	-19812
chr19	44575642	44577153	E071	-18269
chr19	44598047	44599722	E071	2625
chr19	44615787	44615827	E071	20365
chr19	44615925	44616789	E071	20503
chr19	44616806	44618482	E071	21384
chr19	44644743	44644803	E071	49321
chr19	44554948	44556685	E072	-38737
chr19	44556731	44556943	E072	-38479
chr19	44575419	44575610	E072	-19812
chr19	44575642	44577153	E072	-18269
chr19	44598047	44599722	E072	2625
chr19	44615925	44616789	E072	20503
chr19	44616806	44618482	E072	21384
chr19	44644743	44644803	E072	49321
chr19	44554948	44556685	E073	-38737
chr19	44556731	44556943	E073	-38479
chr19	44575419	44575610	E073	-19812
chr19	44575642	44577153	E073	-18269
chr19	44598047	44599722	E073	2625
chr19	44615925	44616789	E073	20503
chr19	44616806	44618482	E073	21384
chr19	44554948	44556685	E074	-38737
chr19	44556731	44556943	E074	-38479
chr19	44575419	44575610	E074	-19812
chr19	44575642	44577153	E074	-18269
chr19	44598047	44599722	E074	2625
chr19	44615925	44616789	E074	20503
chr19	44616806	44618482	E074	21384
chr19	44554948	44556685	E081	-38737
chr19	44556731	44556943	E081	-38479
chr19	44575419	44575610	E081	-19812
chr19	44575642	44577153	E081	-18269
chr19	44598047	44599722	E081	2625
chr19	44615925	44616789	E081	20503
chr19	44616806	44618482	E081	21384
chr19	44554948	44556685	E082	-38737
chr19	44556731	44556943	E082	-38479
chr19	44575419	44575610	E082	-19812
chr19	44575642	44577153	E082	-18269
chr19	44598047	44599722	E082	2625
chr19	44615925	44616789	E082	20503
chr19	44616806	44618482	E082	21384
chr19	44644743	44644803	E082	49321