rs4803676

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ZNF224 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0172 (20850/120796,ExAC)
G==0141 (4235/29922,GnomAD)
G==0134 (3911/29118,TOPMED)
A=0121 (1583/13006,GO-ESP)
G==0196 (982/5008,1000G)
G==0115 (442/3854,ALSPAC)
G==0117 (432/3708,TWINSUK)

Position: chr19:44100970 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 80 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44100970G>A
GRCh37.p13 chr 19	NC_000019.9:g.44605123G>A

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

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.086	A=0.914
1000Genomes	American	Sub	694	G=0.240	A=0.760
1000Genomes	East Asian	Sub	1008	G=0.392	A=0.608
1000Genomes	Europe	Sub	1006	G=0.119	A=0.881
1000Genomes	Global	Study-wide	5008	G=0.196	A=0.804
1000Genomes	South Asian	Sub	978	G=0.190	A=0.810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.115	A=0.885
The Exome Aggregation Consortium	American	Sub	21974	G=0.189	A=0.810
The Exome Aggregation Consortium	Asian	Sub	24794	G=0.275	A=0.724
The Exome Aggregation Consortium	Europe	Sub	73132	G=0.132	A=0.867
The Exome Aggregation Consortium	Global	Study-wide	120796	G=0.172	A=0.827
The Exome Aggregation Consortium	Other	Sub	896	G=0.170	A=0.830
The Genome Aggregation Database	African	Sub	8704	G=0.105	A=0.895
The Genome Aggregation Database	American	Sub	838	G=0.250	A=0.750
The Genome Aggregation Database	East Asian	Sub	1616	G=0.397	A=0.603
The Genome Aggregation Database	Europe	Sub	18462	G=0.131	A=0.868
The Genome Aggregation Database	Global	Study-wide	29922	G=0.141	A=0.858
The Genome Aggregation Database	Other	Sub	302	G=0.170	A=0.830
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.134	A=0.865
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.117	A=0.883

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
rs4803676	0.000164	alcohol consumption	23743675

eQTL of rs4803676 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs4803676 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	-47587
chr19	44557486	44557536	E068	-47587
chr19	44618883	44619034	E068	13760
chr19	44600148	44600194	E069	-4929
chr19	44557933	44557994	E070	-47129
chr19	44600148	44600194	E070	-4929
chr19	44618883	44619034	E070	13760
chr19	44619037	44619091	E070	13914
chr19	44619125	44619165	E070	14002
chr19	44618883	44619034	E071	13760
chr19	44557486	44557536	E081	-47587
chr19	44557486	44557536	E082	-47587
chr19	44600816	44600930	E082	-4193

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44556731	44556943	E067	-48180
chr19	44575419	44575610	E067	-29513
chr19	44575642	44577153	E067	-27970
chr19	44598047	44599722	E067	-5401
chr19	44615925	44616789	E067	10802
chr19	44616806	44618482	E067	11683
chr19	44644881	44646741	E067	39758
chr19	44556731	44556943	E068	-48180
chr19	44575419	44575610	E068	-29513
chr19	44575642	44577153	E068	-27970
chr19	44597812	44597885	E068	-7238
chr19	44597935	44597989	E068	-7134
chr19	44598047	44599722	E068	-5401
chr19	44615787	44615827	E068	10664
chr19	44615925	44616789	E068	10802
chr19	44616806	44618482	E068	11683
chr19	44644743	44644803	E068	39620
chr19	44644881	44646741	E068	39758
chr19	44556731	44556943	E069	-48180
chr19	44575419	44575610	E069	-29513
chr19	44575642	44577153	E069	-27970
chr19	44598047	44599722	E069	-5401
chr19	44615787	44615827	E069	10664
chr19	44615925	44616789	E069	10802
chr19	44616806	44618482	E069	11683
chr19	44644881	44646741	E069	39758
chr19	44556731	44556943	E070	-48180
chr19	44575419	44575610	E070	-29513
chr19	44575642	44577153	E070	-27970
chr19	44598047	44599722	E070	-5401
chr19	44615925	44616789	E070	10802
chr19	44616806	44618482	E070	11683
chr19	44644743	44644803	E070	39620
chr19	44644881	44646741	E070	39758
chr19	44556731	44556943	E071	-48180
chr19	44575419	44575610	E071	-29513
chr19	44575642	44577153	E071	-27970
chr19	44598047	44599722	E071	-5401
chr19	44615787	44615827	E071	10664
chr19	44615925	44616789	E071	10802
chr19	44616806	44618482	E071	11683
chr19	44644743	44644803	E071	39620
chr19	44644881	44646741	E071	39758
chr19	44556731	44556943	E072	-48180
chr19	44575419	44575610	E072	-29513
chr19	44575642	44577153	E072	-27970
chr19	44598047	44599722	E072	-5401
chr19	44615925	44616789	E072	10802
chr19	44616806	44618482	E072	11683
chr19	44644743	44644803	E072	39620
chr19	44644881	44646741	E072	39758
chr19	44556731	44556943	E073	-48180
chr19	44575419	44575610	E073	-29513
chr19	44575642	44577153	E073	-27970
chr19	44598047	44599722	E073	-5401
chr19	44615925	44616789	E073	10802
chr19	44616806	44618482	E073	11683
chr19	44644881	44646741	E073	39758
chr19	44556731	44556943	E074	-48180
chr19	44575419	44575610	E074	-29513
chr19	44575642	44577153	E074	-27970
chr19	44598047	44599722	E074	-5401
chr19	44615925	44616789	E074	10802
chr19	44616806	44618482	E074	11683
chr19	44644881	44646741	E074	39758
chr19	44556731	44556943	E081	-48180
chr19	44575419	44575610	E081	-29513
chr19	44575642	44577153	E081	-27970
chr19	44598047	44599722	E081	-5401
chr19	44615925	44616789	E081	10802
chr19	44616806	44618482	E081	11683
chr19	44644881	44646741	E081	39758
chr19	44556731	44556943	E082	-48180
chr19	44575419	44575610	E082	-29513
chr19	44575642	44577153	E082	-27970
chr19	44598047	44599722	E082	-5401
chr19	44615925	44616789	E082	10802
chr19	44616806	44618482	E082	11683
chr19	44644743	44644803	E082	39620
chr19	44644881	44646741	E082	39758