rs2356750

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ZNF225 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0261 (7840/29934,GnomAD)
G==0318 (9284/29118,TOPMED)
G==0363 (1818/5008,1000G)
G==0116 (446/3854,ALSPAC)
G==0121 (450/3708,TWINSUK)

Position: chr19:44121756 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 29 Enhancers around

Promoter: 60 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44121756G>A
GRCh37.p13 chr 19	NC_000019.9:g.44625909G>A

Gene: ZNF225, zinc finger protein 225(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF225 transcript variant 2	NM_001321685.1:c.	N/A	Intron Variant
ZNF225 transcript variant 1	NM_013362.3:c.	N/A	Intron Variant
ZNF225 transcript variant X1	XM_011527285.2:c.	N/A	Intron Variant
ZNF225 transcript variant X2	XM_011527286.2:c.	N/A	Intron Variant
ZNF225 transcript variant X3	XM_005259223.3:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.557	A=0.443
1000Genomes	American	Sub	694	G=0.340	A=0.660
1000Genomes	East Asian	Sub	1008	G=0.497	A=0.503
1000Genomes	Europe	Sub	1006	G=0.121	A=0.879
1000Genomes	Global	Study-wide	5008	G=0.363	A=0.637
1000Genomes	South Asian	Sub	978	G=0.230	A=0.770
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.116	A=0.884
The Genome Aggregation Database	African	Sub	8694	G=0.501	A=0.499
The Genome Aggregation Database	American	Sub	838	G=0.370	A=0.630
The Genome Aggregation Database	East Asian	Sub	1612	G=0.455	A=0.545
The Genome Aggregation Database	Europe	Sub	18488	G=0.129	A=0.870
The Genome Aggregation Database	Global	Study-wide	29934	G=0.261	A=0.738
The Genome Aggregation Database	Other	Sub	302	G=0.140	A=0.860
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.318	A=0.681
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.121	A=0.879

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
rs2356750	0.0002	alcohol consumption	23743675

eQTL of rs2356750 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 rs2356750 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	44670758	44670818	E067	44849
chr19	44670933	44671011	E067	45024
chr19	44671049	44671115	E067	45140
chr19	44618883	44619034	E068	-6875
chr19	44670758	44670818	E068	44849
chr19	44670933	44671011	E068	45024
chr19	44600148	44600194	E069	-25715
chr19	44600148	44600194	E070	-25715
chr19	44618883	44619034	E070	-6875
chr19	44619037	44619091	E070	-6818
chr19	44619125	44619165	E070	-6744
chr19	44670758	44670818	E070	44849
chr19	44670933	44671011	E070	45024
chr19	44671049	44671115	E070	45140
chr19	44671876	44671938	E070	45967
chr19	44618883	44619034	E071	-6875
chr19	44670758	44670818	E071	44849
chr19	44670758	44670818	E072	44849
chr19	44670933	44671011	E072	45024
chr19	44670758	44670818	E074	44849
chr19	44670933	44671011	E074	45024
chr19	44671876	44671938	E074	45967
chr19	44670758	44670818	E081	44849
chr19	44670933	44671011	E081	45024
chr19	44671049	44671115	E081	45140
chr19	44671876	44671938	E081	45967
chr19	44600816	44600930	E082	-24979
chr19	44670933	44671011	E082	45024
chr19	44671049	44671115	E082	45140

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44598047	44599722	E067	-26187
chr19	44615925	44616789	E067	-9120
chr19	44616806	44618482	E067	-7427
chr19	44644881	44646741	E067	18972
chr19	44668498	44670041	E067	42589
chr19	44597812	44597885	E068	-28024
chr19	44597935	44597989	E068	-27920
chr19	44598047	44599722	E068	-26187
chr19	44615787	44615827	E068	-10082
chr19	44615925	44616789	E068	-9120
chr19	44616806	44618482	E068	-7427
chr19	44644743	44644803	E068	18834
chr19	44644881	44646741	E068	18972
chr19	44668498	44670041	E068	42589
chr19	44598047	44599722	E069	-26187
chr19	44615787	44615827	E069	-10082
chr19	44615925	44616789	E069	-9120
chr19	44616806	44618482	E069	-7427
chr19	44644881	44646741	E069	18972
chr19	44668498	44670041	E069	42589
chr19	44598047	44599722	E070	-26187
chr19	44615925	44616789	E070	-9120
chr19	44616806	44618482	E070	-7427
chr19	44644743	44644803	E070	18834
chr19	44644881	44646741	E070	18972
chr19	44668498	44670041	E070	42589
chr19	44598047	44599722	E071	-26187
chr19	44615787	44615827	E071	-10082
chr19	44615925	44616789	E071	-9120
chr19	44616806	44618482	E071	-7427
chr19	44644743	44644803	E071	18834
chr19	44644881	44646741	E071	18972
chr19	44668498	44670041	E071	42589
chr19	44598047	44599722	E072	-26187
chr19	44615925	44616789	E072	-9120
chr19	44616806	44618482	E072	-7427
chr19	44644743	44644803	E072	18834
chr19	44644881	44646741	E072	18972
chr19	44668498	44670041	E072	42589
chr19	44598047	44599722	E073	-26187
chr19	44615925	44616789	E073	-9120
chr19	44616806	44618482	E073	-7427
chr19	44644881	44646741	E073	18972
chr19	44668498	44670041	E073	42589
chr19	44598047	44599722	E074	-26187
chr19	44615925	44616789	E074	-9120
chr19	44616806	44618482	E074	-7427
chr19	44644881	44646741	E074	18972
chr19	44668498	44670041	E074	42589
chr19	44598047	44599722	E081	-26187
chr19	44615925	44616789	E081	-9120
chr19	44616806	44618482	E081	-7427
chr19	44644881	44646741	E081	18972
chr19	44668498	44670041	E081	42589
chr19	44598047	44599722	E082	-26187
chr19	44615925	44616789	E082	-9120
chr19	44616806	44618482	E082	-7427
chr19	44644743	44644803	E082	18834
chr19	44644881	44646741	E082	18972
chr19	44668498	44670041	E082	42589