rs62115524

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ZNF284 : 3 Prime UTR Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0354 (10552/29804,GnomAD)
A==0426 (12425/29118,TOPMED)
A==0461 (2310/5008,1000G)
A==0160 (617/3854,ALSPAC)
A==0162 (600/3708,TWINSUK)

Position: chr19:44088782 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 76 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44088782A>G
GRCh37.p13 chr 19	NC_000019.9:g.44592935A>G

Gene: ZNF284, zinc finger protein 284(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF284 transcript	NM_001037813.2:c.	N/A	Genic Downstream Transcript Variant
ZNF284 transcript variant X1	XM_011526908.2:c.	N/A	3 Prime UTR Variant
ZNF284 transcript variant X2	XM_011526907.2:c.	N/A	3 Prime UTR Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.750	G=0.250
1000Genomes	American	Sub	694	A=0.490	G=0.510
1000Genomes	East Asian	Sub	1008	A=0.478	G=0.522
1000Genomes	Europe	Sub	1006	A=0.188	G=0.812
1000Genomes	Global	Study-wide	5008	A=0.461	G=0.539
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=0.160	G=0.840
The Genome Aggregation Database	African	Sub	8662	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	1614	A=0.458	G=0.542
The Genome Aggregation Database	Europe	Sub	18394	A=0.194	G=0.806
The Genome Aggregation Database	Global	Study-wide	29804	A=0.354	G=0.646
The Genome Aggregation Database	Other	Sub	302	A=0.230	G=0.770
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.426	G=0.573
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.162	G=0.838

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
rs62115524	7.19E-05	alcohol consumption	23743675

eQTL of rs62115524 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44592935	ZNF284	ENSG00000186026.6	A>G	6.4241e-4	16638	Cerebellum
Chr19:44592935	ZNF284	ENSG00000186026.6	A>G	8.0274e-4	16638	Cerebellar_Hemisphere

meQTL of rs62115524 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	-35399
chr19	44557486	44557536	E068	-35399
chr19	44618883	44619034	E068	25948
chr19	44600148	44600194	E069	7213
chr19	44557933	44557994	E070	-34941
chr19	44600148	44600194	E070	7213
chr19	44618883	44619034	E070	25948
chr19	44619037	44619091	E070	26102
chr19	44619125	44619165	E070	26190
chr19	44618883	44619034	E071	25948
chr19	44557486	44557536	E081	-35399
chr19	44557486	44557536	E082	-35399
chr19	44600816	44600930	E082	7881

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44554793	44554904	E067	-38031
chr19	44554948	44556685	E067	-36250
chr19	44556731	44556943	E067	-35992
chr19	44575419	44575610	E067	-17325
chr19	44575642	44577153	E067	-15782
chr19	44598047	44599722	E067	5112
chr19	44615925	44616789	E067	22990
chr19	44616806	44618482	E067	23871
chr19	44554948	44556685	E068	-36250
chr19	44556731	44556943	E068	-35992
chr19	44575419	44575610	E068	-17325
chr19	44575642	44577153	E068	-15782
chr19	44597812	44597885	E068	4877
chr19	44597935	44597989	E068	5000
chr19	44598047	44599722	E068	5112
chr19	44615787	44615827	E068	22852
chr19	44615925	44616789	E068	22990
chr19	44616806	44618482	E068	23871
chr19	44554948	44556685	E069	-36250
chr19	44556731	44556943	E069	-35992
chr19	44575419	44575610	E069	-17325
chr19	44575642	44577153	E069	-15782
chr19	44598047	44599722	E069	5112
chr19	44615787	44615827	E069	22852
chr19	44615925	44616789	E069	22990
chr19	44616806	44618482	E069	23871
chr19	44554948	44556685	E070	-36250
chr19	44556731	44556943	E070	-35992
chr19	44575419	44575610	E070	-17325
chr19	44575642	44577153	E070	-15782
chr19	44598047	44599722	E070	5112
chr19	44615925	44616789	E070	22990
chr19	44616806	44618482	E070	23871
chr19	44554948	44556685	E071	-36250
chr19	44556731	44556943	E071	-35992
chr19	44575419	44575610	E071	-17325
chr19	44575642	44577153	E071	-15782
chr19	44598047	44599722	E071	5112
chr19	44615787	44615827	E071	22852
chr19	44615925	44616789	E071	22990
chr19	44616806	44618482	E071	23871
chr19	44554948	44556685	E072	-36250
chr19	44556731	44556943	E072	-35992
chr19	44575419	44575610	E072	-17325
chr19	44575642	44577153	E072	-15782
chr19	44598047	44599722	E072	5112
chr19	44615925	44616789	E072	22990
chr19	44616806	44618482	E072	23871
chr19	44554948	44556685	E073	-36250
chr19	44556731	44556943	E073	-35992
chr19	44575419	44575610	E073	-17325
chr19	44575642	44577153	E073	-15782
chr19	44598047	44599722	E073	5112
chr19	44615925	44616789	E073	22990
chr19	44616806	44618482	E073	23871
chr19	44554948	44556685	E074	-36250
chr19	44556731	44556943	E074	-35992
chr19	44575419	44575610	E074	-17325
chr19	44575642	44577153	E074	-15782
chr19	44598047	44599722	E074	5112
chr19	44615925	44616789	E074	22990
chr19	44616806	44618482	E074	23871
chr19	44554948	44556685	E081	-36250
chr19	44556731	44556943	E081	-35992
chr19	44575419	44575610	E081	-17325
chr19	44575642	44577153	E081	-15782
chr19	44598047	44599722	E081	5112
chr19	44615925	44616789	E081	22990
chr19	44616806	44618482	E081	23871
chr19	44554948	44556685	E082	-36250
chr19	44556731	44556943	E082	-35992
chr19	44575419	44575610	E082	-17325
chr19	44575642	44577153	E082	-15782
chr19	44598047	44599722	E082	5112
chr19	44615925	44616789	E082	22990
chr19	44616806	44618482	E082	23871