rs7252213

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ZNF284 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0147 (4421/29954,GnomAD)
G==0141 (4120/29118,TOPMED)
G==0208 (1042/5008,1000G)
G==0121 (466/3854,ALSPAC)
G==0127 (470/3708,TWINSUK)

Position: chr19:44072710 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 86 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44072710G>A
GRCh37.p13 chr 19	NC_000019.9:g.44576863G>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF284 transcript	NM_001037813.2:c.	N/A	Intron Variant
ZNF284 transcript variant X2	XM_011526907.2:c.	N/A	Intron Variant
ZNF284 transcript variant X1	XM_011526908.2:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.113	A=0.887
1000Genomes	American	Sub	694	G=0.270	A=0.730
1000Genomes	East Asian	Sub	1008	G=0.435	A=0.565
1000Genomes	Europe	Sub	1006	G=0.108	A=0.892
1000Genomes	Global	Study-wide	5008	G=0.208	A=0.792
1000Genomes	South Asian	Sub	978	G=0.160	A=0.840
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.121	A=0.879
The Genome Aggregation Database	African	Sub	8718	G=0.120	A=0.880
The Genome Aggregation Database	American	Sub	838	G=0.290	A=0.710
The Genome Aggregation Database	East Asian	Sub	1620	G=0.447	A=0.553
The Genome Aggregation Database	Europe	Sub	18476	G=0.127	A=0.873
The Genome Aggregation Database	Global	Study-wide	29954	G=0.147	A=0.852
The Genome Aggregation Database	Other	Sub	302	G=0.190	A=0.810
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.141	A=0.858
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.127	A=0.873

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
rs7252213	0.000204	alcohol consumption	23743675

eQTL of rs7252213 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44576863	ZNF230	ENSG00000159882.8	G>A	4.7704e-3	69763	Anterior_cingulate_cortex

meQTL of rs7252213 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	-19327
chr19	44557486	44557536	E068	-19327
chr19	44618883	44619034	E068	42020
chr19	44600148	44600194	E069	23285
chr19	44557933	44557994	E070	-18869
chr19	44600148	44600194	E070	23285
chr19	44618883	44619034	E070	42020
chr19	44619037	44619091	E070	42174
chr19	44619125	44619165	E070	42262
chr19	44618883	44619034	E071	42020
chr19	44557486	44557536	E081	-19327
chr19	44557486	44557536	E082	-19327
chr19	44600816	44600930	E082	23953

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44528894	44530101	E067	-46762
chr19	44554793	44554904	E067	-21959
chr19	44554948	44556685	E067	-20178
chr19	44556731	44556943	E067	-19920
chr19	44575419	44575610	E067	-1253
chr19	44575642	44577153	E067	0
chr19	44598047	44599722	E067	21184
chr19	44615925	44616789	E067	39062
chr19	44616806	44618482	E067	39943
chr19	44528894	44530101	E068	-46762
chr19	44554948	44556685	E068	-20178
chr19	44556731	44556943	E068	-19920
chr19	44575419	44575610	E068	-1253
chr19	44575642	44577153	E068	0
chr19	44597812	44597885	E068	20949
chr19	44597935	44597989	E068	21072
chr19	44598047	44599722	E068	21184
chr19	44615787	44615827	E068	38924
chr19	44615925	44616789	E068	39062
chr19	44616806	44618482	E068	39943
chr19	44528894	44530101	E069	-46762
chr19	44554948	44556685	E069	-20178
chr19	44556731	44556943	E069	-19920
chr19	44575419	44575610	E069	-1253
chr19	44575642	44577153	E069	0
chr19	44598047	44599722	E069	21184
chr19	44615787	44615827	E069	38924
chr19	44615925	44616789	E069	39062
chr19	44616806	44618482	E069	39943
chr19	44528894	44530101	E070	-46762
chr19	44554948	44556685	E070	-20178
chr19	44556731	44556943	E070	-19920
chr19	44575419	44575610	E070	-1253
chr19	44575642	44577153	E070	0
chr19	44598047	44599722	E070	21184
chr19	44615925	44616789	E070	39062
chr19	44616806	44618482	E070	39943
chr19	44528894	44530101	E071	-46762
chr19	44554948	44556685	E071	-20178
chr19	44556731	44556943	E071	-19920
chr19	44575419	44575610	E071	-1253
chr19	44575642	44577153	E071	0
chr19	44598047	44599722	E071	21184
chr19	44615787	44615827	E071	38924
chr19	44615925	44616789	E071	39062
chr19	44616806	44618482	E071	39943
chr19	44528894	44530101	E072	-46762
chr19	44554948	44556685	E072	-20178
chr19	44556731	44556943	E072	-19920
chr19	44575419	44575610	E072	-1253
chr19	44575642	44577153	E072	0
chr19	44598047	44599722	E072	21184
chr19	44615925	44616789	E072	39062
chr19	44616806	44618482	E072	39943
chr19	44528894	44530101	E073	-46762
chr19	44554948	44556685	E073	-20178
chr19	44556731	44556943	E073	-19920
chr19	44575419	44575610	E073	-1253
chr19	44575642	44577153	E073	0
chr19	44598047	44599722	E073	21184
chr19	44615925	44616789	E073	39062
chr19	44616806	44618482	E073	39943
chr19	44528894	44530101	E074	-46762
chr19	44554948	44556685	E074	-20178
chr19	44556731	44556943	E074	-19920
chr19	44575419	44575610	E074	-1253
chr19	44575642	44577153	E074	0
chr19	44598047	44599722	E074	21184
chr19	44615925	44616789	E074	39062
chr19	44616806	44618482	E074	39943
chr19	44528894	44530101	E081	-46762
chr19	44554948	44556685	E081	-20178
chr19	44556731	44556943	E081	-19920
chr19	44575419	44575610	E081	-1253
chr19	44575642	44577153	E081	0
chr19	44598047	44599722	E081	21184
chr19	44615925	44616789	E081	39062
chr19	44616806	44618482	E081	39943
chr19	44528894	44530101	E082	-46762
chr19	44554948	44556685	E082	-20178
chr19	44556731	44556943	E082	-19920
chr19	44575419	44575610	E082	-1253
chr19	44575642	44577153	E082	0
chr19	44598047	44599722	E082	21184
chr19	44615925	44616789	E082	39062
chr19	44616806	44618482	E082	39943