rs4803680

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

ZNF224 : Intron Variant
LOC100379224 : 500B Downstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0148 (4456/29936,GnomAD)
T==0145 (4247/29118,TOPMED)
T==0203 (1018/5008,1000G)
T==0115 (444/3854,ALSPAC)
T==0117 (432/3708,TWINSUK)

Position: chr19:44105140 (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.44105140T>C
GRCh37.p13 chr 19	NC_000019.9:g.44609293T>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	T=0.116	C=0.884
1000Genomes	American	Sub	694	T=0.250	C=0.750
1000Genomes	East Asian	Sub	1008	T=0.382	C=0.618
1000Genomes	Europe	Sub	1006	T=0.120	C=0.880
1000Genomes	Global	Study-wide	5008	T=0.203	C=0.797
1000Genomes	South Asian	Sub	978	T=0.190	C=0.810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.115	C=0.885
The Genome Aggregation Database	African	Sub	8708	T=0.132	C=0.868
The Genome Aggregation Database	American	Sub	836	T=0.250	C=0.750
The Genome Aggregation Database	East Asian	Sub	1614	T=0.388	C=0.612
The Genome Aggregation Database	Europe	Sub	18476	T=0.130	C=0.869
The Genome Aggregation Database	Global	Study-wide	29936	T=0.148	C=0.851
The Genome Aggregation Database	Other	Sub	302	T=0.170	C=0.830
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.145	C=0.854
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.117	C=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
rs4803680	0.000155	alcohol consumption	23743675

eQTL of rs4803680 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 rs4803680 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	9590
chr19	44600148	44600194	E069	-9099
chr19	44600148	44600194	E070	-9099
chr19	44618883	44619034	E070	9590
chr19	44619037	44619091	E070	9744
chr19	44619125	44619165	E070	9832
chr19	44618883	44619034	E071	9590
chr19	44600816	44600930	E082	-8363

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44575419	44575610	E067	-33683
chr19	44575642	44577153	E067	-32140
chr19	44598047	44599722	E067	-9571
chr19	44615925	44616789	E067	6632
chr19	44616806	44618482	E067	7513
chr19	44644881	44646741	E067	35588
chr19	44575419	44575610	E068	-33683
chr19	44575642	44577153	E068	-32140
chr19	44597812	44597885	E068	-11408
chr19	44597935	44597989	E068	-11304
chr19	44598047	44599722	E068	-9571
chr19	44615787	44615827	E068	6494
chr19	44615925	44616789	E068	6632
chr19	44616806	44618482	E068	7513
chr19	44644743	44644803	E068	35450
chr19	44644881	44646741	E068	35588
chr19	44575419	44575610	E069	-33683
chr19	44575642	44577153	E069	-32140
chr19	44598047	44599722	E069	-9571
chr19	44615787	44615827	E069	6494
chr19	44615925	44616789	E069	6632
chr19	44616806	44618482	E069	7513
chr19	44644881	44646741	E069	35588
chr19	44575419	44575610	E070	-33683
chr19	44575642	44577153	E070	-32140
chr19	44598047	44599722	E070	-9571
chr19	44615925	44616789	E070	6632
chr19	44616806	44618482	E070	7513
chr19	44644743	44644803	E070	35450
chr19	44644881	44646741	E070	35588
chr19	44575419	44575610	E071	-33683
chr19	44575642	44577153	E071	-32140
chr19	44598047	44599722	E071	-9571
chr19	44615787	44615827	E071	6494
chr19	44615925	44616789	E071	6632
chr19	44616806	44618482	E071	7513
chr19	44644743	44644803	E071	35450
chr19	44644881	44646741	E071	35588
chr19	44575419	44575610	E072	-33683
chr19	44575642	44577153	E072	-32140
chr19	44598047	44599722	E072	-9571
chr19	44615925	44616789	E072	6632
chr19	44616806	44618482	E072	7513
chr19	44644743	44644803	E072	35450
chr19	44644881	44646741	E072	35588
chr19	44575419	44575610	E073	-33683
chr19	44575642	44577153	E073	-32140
chr19	44598047	44599722	E073	-9571
chr19	44615925	44616789	E073	6632
chr19	44616806	44618482	E073	7513
chr19	44644881	44646741	E073	35588
chr19	44575419	44575610	E074	-33683
chr19	44575642	44577153	E074	-32140
chr19	44598047	44599722	E074	-9571
chr19	44615925	44616789	E074	6632
chr19	44616806	44618482	E074	7513
chr19	44644881	44646741	E074	35588
chr19	44575419	44575610	E081	-33683
chr19	44575642	44577153	E081	-32140
chr19	44598047	44599722	E081	-9571
chr19	44615925	44616789	E081	6632
chr19	44616806	44618482	E081	7513
chr19	44644881	44646741	E081	35588
chr19	44575419	44575610	E082	-33683
chr19	44575642	44577153	E082	-32140
chr19	44598047	44599722	E082	-9571
chr19	44615925	44616789	E082	6632
chr19	44616806	44618482	E082	7513
chr19	44644743	44644803	E082	35450
chr19	44644881	44646741	E082	35588