rs4803681

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

ZNF224 : Intron Variant
LOC100379224 : 500B Downstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0343 (10280/29900,GnomAD)
G==0411 (11974/29118,TOPMED)
G==0446 (2234/5008,1000G)
G==0158 (609/3854,ALSPAC)
G==0162 (600/3708,TWINSUK)

Position: chr19:44105332 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 70 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44105332G>A
GRCh38.p7 chr 19	NC_000019.10:g.44105332G>C
GRCh37.p13 chr 19	NC_000019.9:g.44609485G>A
GRCh37.p13 chr 19	NC_000019.9:g.44609485G>C

Gene: ZNF224, zinc finger protein 224(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF224 transcript	NM_001321645.1:c.	N/A	Intron Variant
ZNF224 transcript	NM_013398.3:c.	N/A	Intron Variant
ZNF224 transcript variant X1	XM_017027261.1:c.	N/A	Intron Variant

Gene: LOC100379224, uncharacterized LOC100379224(minus strand): 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100379224 transcript	NR_033341.1:n.	N/A	Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.708	A=0.292
1000Genomes	American	Sub	694	G=0.480	A=0.520
1000Genomes	East Asian	Sub	1008	G=0.468	A=0.532
1000Genomes	Europe	Sub	1006	G=0.193	A=0.807
1000Genomes	Global	Study-wide	5008	G=0.446	A=0.554
1000Genomes	South Asian	Sub	978	G=0.300	A=0.700
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.158	A=0.842
The Genome Aggregation Database	African	Sub	8682	G=0.629	C=0.000
The Genome Aggregation Database	American	Sub	834	G=0.500	C=0.00,
The Genome Aggregation Database	East Asian	Sub	1614	G=0.446	C=0.000
The Genome Aggregation Database	Europe	Sub	18468	G=0.195	C=0.000
The Genome Aggregation Database	Global	Study-wide	29900	G=0.343	C=0.000
The Genome Aggregation Database	Other	Sub	302	G=0.230	C=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.411	A=0.588
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.162	A=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
rs4803681	0.000143	alcohol consumption	23743675

eQTL of rs4803681 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44609485	ZNF284	ENSG00000186026.6	G>A	6.4241e-4	33188	Cerebellum
Chr19:44609485	ZNF284	ENSG00000186026.6	G>A	8.0274e-4	33188	Cerebellar_Hemisphere

meQTL of rs4803681 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	44618883	44619034	E068	9723
chr19	44600148	44600194	E069	-8966
chr19	44600148	44600194	E070	-8966
chr19	44618883	44619034	E070	9723
chr19	44619037	44619091	E070	9877
chr19	44619125	44619165	E070	9965
chr19	44618883	44619034	E071	9723
chr19	44600816	44600930	E082	-8230

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44575419	44575610	E067	-33550
chr19	44575642	44577153	E067	-32007
chr19	44598047	44599722	E067	-9438
chr19	44615925	44616789	E067	6765
chr19	44616806	44618482	E067	7646
chr19	44644881	44646741	E067	35721
chr19	44575419	44575610	E068	-33550
chr19	44575642	44577153	E068	-32007
chr19	44597812	44597885	E068	-11275
chr19	44597935	44597989	E068	-11171
chr19	44598047	44599722	E068	-9438
chr19	44615787	44615827	E068	6627
chr19	44615925	44616789	E068	6765
chr19	44616806	44618482	E068	7646
chr19	44644743	44644803	E068	35583
chr19	44644881	44646741	E068	35721
chr19	44575419	44575610	E069	-33550
chr19	44575642	44577153	E069	-32007
chr19	44598047	44599722	E069	-9438
chr19	44615787	44615827	E069	6627
chr19	44615925	44616789	E069	6765
chr19	44616806	44618482	E069	7646
chr19	44644881	44646741	E069	35721
chr19	44575419	44575610	E070	-33550
chr19	44575642	44577153	E070	-32007
chr19	44598047	44599722	E070	-9438
chr19	44615925	44616789	E070	6765
chr19	44616806	44618482	E070	7646
chr19	44644743	44644803	E070	35583
chr19	44644881	44646741	E070	35721
chr19	44575419	44575610	E071	-33550
chr19	44575642	44577153	E071	-32007
chr19	44598047	44599722	E071	-9438
chr19	44615787	44615827	E071	6627
chr19	44615925	44616789	E071	6765
chr19	44616806	44618482	E071	7646
chr19	44644743	44644803	E071	35583
chr19	44644881	44646741	E071	35721
chr19	44575419	44575610	E072	-33550
chr19	44575642	44577153	E072	-32007
chr19	44598047	44599722	E072	-9438
chr19	44615925	44616789	E072	6765
chr19	44616806	44618482	E072	7646
chr19	44644743	44644803	E072	35583
chr19	44644881	44646741	E072	35721
chr19	44575419	44575610	E073	-33550
chr19	44575642	44577153	E073	-32007
chr19	44598047	44599722	E073	-9438
chr19	44615925	44616789	E073	6765
chr19	44616806	44618482	E073	7646
chr19	44644881	44646741	E073	35721
chr19	44575419	44575610	E074	-33550
chr19	44575642	44577153	E074	-32007
chr19	44598047	44599722	E074	-9438
chr19	44615925	44616789	E074	6765
chr19	44616806	44618482	E074	7646
chr19	44644881	44646741	E074	35721
chr19	44575419	44575610	E081	-33550
chr19	44575642	44577153	E081	-32007
chr19	44598047	44599722	E081	-9438
chr19	44615925	44616789	E081	6765
chr19	44616806	44618482	E081	7646
chr19	44644881	44646741	E081	35721
chr19	44575419	44575610	E082	-33550
chr19	44575642	44577153	E082	-32007
chr19	44598047	44599722	E082	-9438
chr19	44615925	44616789	E082	6765
chr19	44616806	44618482	E082	7646
chr19	44644743	44644803	E082	35583
chr19	44644881	44646741	E082	35721