rs8105860

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ZNF224 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0244 (7320/29928,GnomAD)
A==0291 (8488/29118,TOPMED)
A==0354 (1773/5008,1000G)
A==0122 (472/3854,ALSPAC)
A==0123 (455/3708,TWINSUK)

Position: chr19:44102775 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 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.44102775A>G
GRCh37.p13 chr 19	NC_000019.9:g.44606928A>G

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	A=0.468	G=0.532
1000Genomes	American	Sub	694	A=0.450	G=0.550
1000Genomes	East Asian	Sub	1008	A=0.474	G=0.526
1000Genomes	Europe	Sub	1006	A=0.142	G=0.858
1000Genomes	Global	Study-wide	5008	A=0.354	G=0.646
1000Genomes	South Asian	Sub	978	A=0.230	G=0.770
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.122	G=0.878
The Genome Aggregation Database	African	Sub	8702	A=0.397	G=0.603
The Genome Aggregation Database	American	Sub	836	A=0.460	G=0.540
The Genome Aggregation Database	East Asian	Sub	1612	A=0.453	G=0.547
The Genome Aggregation Database	Europe	Sub	18476	A=0.145	G=0.854
The Genome Aggregation Database	Global	Study-wide	29928	A=0.244	G=0.755
The Genome Aggregation Database	Other	Sub	302	A=0.190	G=0.810
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.291	G=0.708
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.123	G=0.877

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
rs8105860	0.000112	alcohol consumption	23743675

eQTL of rs8105860 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 rs8105860 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	-49392
chr19	44557486	44557536	E068	-49392
chr19	44618883	44619034	E068	11955
chr19	44600148	44600194	E069	-6734
chr19	44557933	44557994	E070	-48934
chr19	44600148	44600194	E070	-6734
chr19	44618883	44619034	E070	11955
chr19	44619037	44619091	E070	12109
chr19	44619125	44619165	E070	12197
chr19	44618883	44619034	E071	11955
chr19	44557486	44557536	E081	-49392
chr19	44557486	44557536	E082	-49392
chr19	44600816	44600930	E082	-5998

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44575419	44575610	E067	-31318
chr19	44575642	44577153	E067	-29775
chr19	44598047	44599722	E067	-7206
chr19	44615925	44616789	E067	8997
chr19	44616806	44618482	E067	9878
chr19	44644881	44646741	E067	37953
chr19	44575419	44575610	E068	-31318
chr19	44575642	44577153	E068	-29775
chr19	44597812	44597885	E068	-9043
chr19	44597935	44597989	E068	-8939
chr19	44598047	44599722	E068	-7206
chr19	44615787	44615827	E068	8859
chr19	44615925	44616789	E068	8997
chr19	44616806	44618482	E068	9878
chr19	44644743	44644803	E068	37815
chr19	44644881	44646741	E068	37953
chr19	44575419	44575610	E069	-31318
chr19	44575642	44577153	E069	-29775
chr19	44598047	44599722	E069	-7206
chr19	44615787	44615827	E069	8859
chr19	44615925	44616789	E069	8997
chr19	44616806	44618482	E069	9878
chr19	44644881	44646741	E069	37953
chr19	44575419	44575610	E070	-31318
chr19	44575642	44577153	E070	-29775
chr19	44598047	44599722	E070	-7206
chr19	44615925	44616789	E070	8997
chr19	44616806	44618482	E070	9878
chr19	44644743	44644803	E070	37815
chr19	44644881	44646741	E070	37953
chr19	44575419	44575610	E071	-31318
chr19	44575642	44577153	E071	-29775
chr19	44598047	44599722	E071	-7206
chr19	44615787	44615827	E071	8859
chr19	44615925	44616789	E071	8997
chr19	44616806	44618482	E071	9878
chr19	44644743	44644803	E071	37815
chr19	44644881	44646741	E071	37953
chr19	44575419	44575610	E072	-31318
chr19	44575642	44577153	E072	-29775
chr19	44598047	44599722	E072	-7206
chr19	44615925	44616789	E072	8997
chr19	44616806	44618482	E072	9878
chr19	44644743	44644803	E072	37815
chr19	44644881	44646741	E072	37953
chr19	44575419	44575610	E073	-31318
chr19	44575642	44577153	E073	-29775
chr19	44598047	44599722	E073	-7206
chr19	44615925	44616789	E073	8997
chr19	44616806	44618482	E073	9878
chr19	44644881	44646741	E073	37953
chr19	44575419	44575610	E074	-31318
chr19	44575642	44577153	E074	-29775
chr19	44598047	44599722	E074	-7206
chr19	44615925	44616789	E074	8997
chr19	44616806	44618482	E074	9878
chr19	44644881	44646741	E074	37953
chr19	44575419	44575610	E081	-31318
chr19	44575642	44577153	E081	-29775
chr19	44598047	44599722	E081	-7206
chr19	44615925	44616789	E081	8997
chr19	44616806	44618482	E081	9878
chr19	44644881	44646741	E081	37953
chr19	44575419	44575610	E082	-31318
chr19	44575642	44577153	E082	-29775
chr19	44598047	44599722	E082	-7206
chr19	44615925	44616789	E082	8997
chr19	44616806	44618482	E082	9878
chr19	44644743	44644803	E082	37815
chr19	44644881	44646741	E082	37953