rs1236716

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0314 (9415/29940,GnomAD)
G==0374 (10917/29118,TOPMED)
G==0424 (2124/5008,1000G)
G==0150 (579/3854,ALSPAC)
G==0160 (592/3708,TWINSUK)

Position: chr19:44136776 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 29 Enhancers around

Promoter: 60 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44136776G>A
GRCh37.p13 chr 19	NC_000019.9:g.44640929G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.630	A=0.370
1000Genomes	American	Sub	694	G=0.460	A=0.540
1000Genomes	East Asian	Sub	1008	G=0.508	A=0.492
1000Genomes	Europe	Sub	1006	G=0.176	A=0.824
1000Genomes	Global	Study-wide	5008	G=0.424	A=0.576
1000Genomes	South Asian	Sub	978	G=0.290	A=0.710
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.150	A=0.850
The Genome Aggregation Database	African	Sub	8700	G=0.567	A=0.433
The Genome Aggregation Database	American	Sub	838	G=0.480	A=0.520
The Genome Aggregation Database	East Asian	Sub	1612	G=0.465	A=0.535
The Genome Aggregation Database	Europe	Sub	18488	G=0.177	A=0.822
The Genome Aggregation Database	Global	Study-wide	29940	G=0.314	A=0.685
The Genome Aggregation Database	Other	Sub	302	G=0.180	A=0.820
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.374	A=0.625
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.160	A=0.840

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
rs1236716	7.97E-05	alcohol consumption	23743675

eQTL of rs1236716 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44640929	ZNF284	ENSG00000186026.6	G>A	8.0274e-4	64632	Cerebellar_Hemisphere

meQTL of rs1236716 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	44670758	44670818	E067	29829
chr19	44670933	44671011	E067	30004
chr19	44671049	44671115	E067	30120
chr19	44618883	44619034	E068	-21895
chr19	44670758	44670818	E068	29829
chr19	44670933	44671011	E068	30004
chr19	44600148	44600194	E069	-40735
chr19	44600148	44600194	E070	-40735
chr19	44618883	44619034	E070	-21895
chr19	44619037	44619091	E070	-21838
chr19	44619125	44619165	E070	-21764
chr19	44670758	44670818	E070	29829
chr19	44670933	44671011	E070	30004
chr19	44671049	44671115	E070	30120
chr19	44671876	44671938	E070	30947
chr19	44618883	44619034	E071	-21895
chr19	44670758	44670818	E071	29829
chr19	44670758	44670818	E072	29829
chr19	44670933	44671011	E072	30004
chr19	44670758	44670818	E074	29829
chr19	44670933	44671011	E074	30004
chr19	44671876	44671938	E074	30947
chr19	44670758	44670818	E081	29829
chr19	44670933	44671011	E081	30004
chr19	44671049	44671115	E081	30120
chr19	44671876	44671938	E081	30947
chr19	44600816	44600930	E082	-39999
chr19	44670933	44671011	E082	30004
chr19	44671049	44671115	E082	30120

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44598047	44599722	E067	-41207
chr19	44615925	44616789	E067	-24140
chr19	44616806	44618482	E067	-22447
chr19	44644881	44646741	E067	3952
chr19	44668498	44670041	E067	27569
chr19	44597812	44597885	E068	-43044
chr19	44597935	44597989	E068	-42940
chr19	44598047	44599722	E068	-41207
chr19	44615787	44615827	E068	-25102
chr19	44615925	44616789	E068	-24140
chr19	44616806	44618482	E068	-22447
chr19	44644743	44644803	E068	3814
chr19	44644881	44646741	E068	3952
chr19	44668498	44670041	E068	27569
chr19	44598047	44599722	E069	-41207
chr19	44615787	44615827	E069	-25102
chr19	44615925	44616789	E069	-24140
chr19	44616806	44618482	E069	-22447
chr19	44644881	44646741	E069	3952
chr19	44668498	44670041	E069	27569
chr19	44598047	44599722	E070	-41207
chr19	44615925	44616789	E070	-24140
chr19	44616806	44618482	E070	-22447
chr19	44644743	44644803	E070	3814
chr19	44644881	44646741	E070	3952
chr19	44668498	44670041	E070	27569
chr19	44598047	44599722	E071	-41207
chr19	44615787	44615827	E071	-25102
chr19	44615925	44616789	E071	-24140
chr19	44616806	44618482	E071	-22447
chr19	44644743	44644803	E071	3814
chr19	44644881	44646741	E071	3952
chr19	44668498	44670041	E071	27569
chr19	44598047	44599722	E072	-41207
chr19	44615925	44616789	E072	-24140
chr19	44616806	44618482	E072	-22447
chr19	44644743	44644803	E072	3814
chr19	44644881	44646741	E072	3952
chr19	44668498	44670041	E072	27569
chr19	44598047	44599722	E073	-41207
chr19	44615925	44616789	E073	-24140
chr19	44616806	44618482	E073	-22447
chr19	44644881	44646741	E073	3952
chr19	44668498	44670041	E073	27569
chr19	44598047	44599722	E074	-41207
chr19	44615925	44616789	E074	-24140
chr19	44616806	44618482	E074	-22447
chr19	44644881	44646741	E074	3952
chr19	44668498	44670041	E074	27569
chr19	44598047	44599722	E081	-41207
chr19	44615925	44616789	E081	-24140
chr19	44616806	44618482	E081	-22447
chr19	44644881	44646741	E081	3952
chr19	44668498	44670041	E081	27569
chr19	44598047	44599722	E082	-41207
chr19	44615925	44616789	E082	-24140
chr19	44616806	44618482	E082	-22447
chr19	44644743	44644803	E082	3814
chr19	44644881	44646741	E082	3952
chr19	44668498	44670041	E082	27569