rs9646633

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ZNF284 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0184 (5524/29954,GnomAD)
A==0198 (5777/29118,TOPMED)
A==0252 (1263/5008,1000G)
A==0120 (464/3854,ALSPAC)
A==0126 (468/3708,TWINSUK)

Position: chr19:44070874 (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.44070874A>G
GRCh37.p13 chr 19	NC_000019.9:g.44575027A>G

Gene: ZNF284, zinc finger protein 284(plus strand): 2KB Upstream Variant

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

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.275	G=0.725
1000Genomes	American	Sub	694	A=0.280	G=0.720
1000Genomes	East Asian	Sub	1008	A=0.435	G=0.565
1000Genomes	Europe	Sub	1006	A=0.108	G=0.892
1000Genomes	Global	Study-wide	5008	A=0.252	G=0.748
1000Genomes	South Asian	Sub	978	A=0.160	G=0.840
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.120	G=0.880
The Genome Aggregation Database	African	Sub	8722	A=0.248	G=0.752
The Genome Aggregation Database	American	Sub	838	A=0.300	G=0.700
The Genome Aggregation Database	East Asian	Sub	1610	A=0.447	G=0.553
The Genome Aggregation Database	Europe	Sub	18482	A=0.126	G=0.873
The Genome Aggregation Database	Global	Study-wide	29954	A=0.184	G=0.815
The Genome Aggregation Database	Other	Sub	302	A=0.190	G=0.810
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.198	G=0.801
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.126	G=0.874

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

SNP ID	p-value	Traits	Study
rs9646633	0.000312	alcohol consumption	23743675

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44575027	ZNF284	ENSG00000186026.6	A>G	1.0028e-2	-1270	Caudate_basal_ganglia

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	-17491
chr19	44557486	44557536	E068	-17491
chr19	44618883	44619034	E068	43856
chr19	44600148	44600194	E069	25121
chr19	44557933	44557994	E070	-17033
chr19	44600148	44600194	E070	25121
chr19	44618883	44619034	E070	43856
chr19	44619037	44619091	E070	44010
chr19	44619125	44619165	E070	44098
chr19	44618883	44619034	E071	43856
chr19	44557486	44557536	E081	-17491
chr19	44557486	44557536	E082	-17491
chr19	44600816	44600930	E082	25789

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44528894	44530101	E067	-44926
chr19	44554793	44554904	E067	-20123
chr19	44554948	44556685	E067	-18342
chr19	44556731	44556943	E067	-18084
chr19	44575419	44575610	E067	392
chr19	44575642	44577153	E067	615
chr19	44598047	44599722	E067	23020
chr19	44615925	44616789	E067	40898
chr19	44616806	44618482	E067	41779
chr19	44528894	44530101	E068	-44926
chr19	44554948	44556685	E068	-18342
chr19	44556731	44556943	E068	-18084
chr19	44575419	44575610	E068	392
chr19	44575642	44577153	E068	615
chr19	44597812	44597885	E068	22785
chr19	44597935	44597989	E068	22908
chr19	44598047	44599722	E068	23020
chr19	44615787	44615827	E068	40760
chr19	44615925	44616789	E068	40898
chr19	44616806	44618482	E068	41779
chr19	44528894	44530101	E069	-44926
chr19	44554948	44556685	E069	-18342
chr19	44556731	44556943	E069	-18084
chr19	44575419	44575610	E069	392
chr19	44575642	44577153	E069	615
chr19	44598047	44599722	E069	23020
chr19	44615787	44615827	E069	40760
chr19	44615925	44616789	E069	40898
chr19	44616806	44618482	E069	41779
chr19	44528894	44530101	E070	-44926
chr19	44554948	44556685	E070	-18342
chr19	44556731	44556943	E070	-18084
chr19	44575419	44575610	E070	392
chr19	44575642	44577153	E070	615
chr19	44598047	44599722	E070	23020
chr19	44615925	44616789	E070	40898
chr19	44616806	44618482	E070	41779
chr19	44528894	44530101	E071	-44926
chr19	44554948	44556685	E071	-18342
chr19	44556731	44556943	E071	-18084
chr19	44575419	44575610	E071	392
chr19	44575642	44577153	E071	615
chr19	44598047	44599722	E071	23020
chr19	44615787	44615827	E071	40760
chr19	44615925	44616789	E071	40898
chr19	44616806	44618482	E071	41779
chr19	44528894	44530101	E072	-44926
chr19	44554948	44556685	E072	-18342
chr19	44556731	44556943	E072	-18084
chr19	44575419	44575610	E072	392
chr19	44575642	44577153	E072	615
chr19	44598047	44599722	E072	23020
chr19	44615925	44616789	E072	40898
chr19	44616806	44618482	E072	41779
chr19	44528894	44530101	E073	-44926
chr19	44554948	44556685	E073	-18342
chr19	44556731	44556943	E073	-18084
chr19	44575419	44575610	E073	392
chr19	44575642	44577153	E073	615
chr19	44598047	44599722	E073	23020
chr19	44615925	44616789	E073	40898
chr19	44616806	44618482	E073	41779
chr19	44528894	44530101	E074	-44926
chr19	44554948	44556685	E074	-18342
chr19	44556731	44556943	E074	-18084
chr19	44575419	44575610	E074	392
chr19	44575642	44577153	E074	615
chr19	44598047	44599722	E074	23020
chr19	44615925	44616789	E074	40898
chr19	44616806	44618482	E074	41779
chr19	44528894	44530101	E081	-44926
chr19	44554948	44556685	E081	-18342
chr19	44556731	44556943	E081	-18084
chr19	44575419	44575610	E081	392
chr19	44575642	44577153	E081	615
chr19	44598047	44599722	E081	23020
chr19	44615925	44616789	E081	40898
chr19	44616806	44618482	E081	41779
chr19	44528894	44530101	E082	-44926
chr19	44554948	44556685	E082	-18342
chr19	44556731	44556943	E082	-18084
chr19	44575419	44575610	E082	392
chr19	44575642	44577153	E082	615
chr19	44598047	44599722	E082	23020
chr19	44615925	44616789	E082	40898
chr19	44616806	44618482	E082	41779

rs9646633

Genomic Coordinates

Gene: ZNF284, zinc finger protein 284(plus strand): 2KB Upstream Variant

Population Frequency

P-Value

eQTL of rs9646633 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs9646633 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)