rs2188563

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0248 (7442/29932,GnomAD)
G==0259 (7550/29118,TOPMED)
G==0181 (904/5008,1000G)
G==0296 (1140/3854,ALSPAC)
G==0297 (1102/3708,TWINSUK)

Position: chr7:107733426 (GRCh38.p7) (7q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 86 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.107733426G>A
GRCh37.p13 chr 7	NC_000007.13:g.107373871G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.214	A=0.786
1000Genomes	American	Sub	694	G=0.230	A=0.770
1000Genomes	East Asian	Sub	1008	G=0.017	A=0.983
1000Genomes	Europe	Sub	1006	G=0.304	A=0.696
1000Genomes	Global	Study-wide	5008	G=0.181	A=0.819
1000Genomes	South Asian	Sub	978	G=0.140	A=0.860
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.296	A=0.704
The Genome Aggregation Database	African	Sub	8712	G=0.237	A=0.763
The Genome Aggregation Database	American	Sub	834	G=0.180	A=0.820
The Genome Aggregation Database	East Asian	Sub	1622	G=0.011	A=0.989
The Genome Aggregation Database	Europe	Sub	18464	G=0.277	A=0.722
The Genome Aggregation Database	Global	Study-wide	29932	G=0.248	A=0.751
The Genome Aggregation Database	Other	Sub	300	G=0.310	A=0.690
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.259	A=0.740
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.297	A=0.703

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

SNP ID	p-value	Traits	Study
rs2188563	6.04E-05	alcohol consumption	23743675

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

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 )
chr7	107333486	107333578	E067	-40293
chr7	107333824	107334105	E067	-39766
chr7	107334175	107334517	E067	-39354
chr7	107334625	107335182	E067	-38689
chr7	107335233	107335327	E067	-38544
chr7	107383023	107383099	E067	9152
chr7	107386669	107386772	E067	12798
chr7	107387624	107387709	E067	13753
chr7	107387798	107387880	E067	13927
chr7	107333486	107333578	E068	-40293
chr7	107333824	107334105	E068	-39766
chr7	107334175	107334517	E068	-39354
chr7	107334625	107335182	E068	-38689
chr7	107335233	107335327	E068	-38544
chr7	107341168	107341256	E068	-32615
chr7	107341276	107341497	E068	-32374
chr7	107382753	107382818	E068	8882
chr7	107386669	107386772	E068	12798
chr7	107387624	107387709	E068	13753
chr7	107387798	107387880	E068	13927
chr7	107387932	107387978	E068	14061
chr7	107388350	107388400	E068	14479
chr7	107333486	107333578	E069	-40293
chr7	107333824	107334105	E069	-39766
chr7	107334175	107334517	E069	-39354
chr7	107334625	107335182	E069	-38689
chr7	107335233	107335327	E069	-38544
chr7	107335529	107335618	E069	-38253
chr7	107337294	107337374	E069	-36497
chr7	107337495	107337545	E069	-36326
chr7	107383023	107383099	E069	9152
chr7	107386669	107386772	E069	12798
chr7	107387624	107387709	E069	13753
chr7	107387798	107387880	E069	13927
chr7	107387932	107387978	E069	14061
chr7	107332948	107333294	E070	-40577
chr7	107333486	107333578	E070	-40293
chr7	107333824	107334105	E070	-39766
chr7	107334175	107334517	E070	-39354
chr7	107334625	107335182	E070	-38689
chr7	107335233	107335327	E070	-38544
chr7	107335529	107335618	E070	-38253
chr7	107335644	107335829	E070	-38042
chr7	107337495	107337545	E070	-36326
chr7	107337639	107338679	E070	-35192
chr7	107383023	107383099	E070	9152
chr7	107386669	107386772	E070	12798
chr7	107387798	107387880	E070	13927
chr7	107387932	107387978	E070	14061
chr7	107388350	107388400	E070	14479
chr7	107332129	107332230	E071	-41641
chr7	107332267	107332442	E071	-41429
chr7	107332948	107333294	E071	-40577
chr7	107333486	107333578	E071	-40293
chr7	107333824	107334105	E071	-39766
chr7	107335233	107335327	E071	-38544
chr7	107337495	107337545	E071	-36326
chr7	107337639	107338679	E071	-35192
chr7	107383023	107383099	E071	9152
chr7	107333824	107334105	E072	-39766
chr7	107334175	107334517	E072	-39354
chr7	107334625	107335182	E072	-38689
chr7	107337639	107338679	E072	-35192
chr7	107383023	107383099	E072	9152
chr7	107386669	107386772	E072	12798
chr7	107333824	107334105	E073	-39766
chr7	107334175	107334517	E073	-39354
chr7	107334625	107335182	E073	-38689
chr7	107335233	107335327	E073	-38544
chr7	107337639	107338679	E073	-35192
chr7	107333486	107333578	E074	-40293
chr7	107333824	107334105	E074	-39766
chr7	107334175	107334517	E074	-39354
chr7	107335233	107335327	E074	-38544
chr7	107333824	107334105	E081	-39766
chr7	107337639	107338679	E081	-35192
chr7	107338996	107339076	E081	-34795
chr7	107334175	107334517	E082	-39354
chr7	107334625	107335182	E082	-38689
chr7	107337294	107337374	E082	-36497
chr7	107337495	107337545	E082	-36326
chr7	107337639	107338679	E082	-35192
chr7	107386669	107386772	E082	12798
chr7	107387798	107387880	E082	13927
chr7	107387932	107387978	E082	14061
chr7	107388350	107388400	E082	14479

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	107383118	107385525	E067	9247
chr7	107383118	107385525	E068	9247
chr7	107383118	107385525	E069	9247
chr7	107383118	107385525	E070	9247
chr7	107383118	107385525	E071	9247
chr7	107383118	107385525	E072	9247
chr7	107383118	107385525	E073	9247
chr7	107383118	107385525	E074	9247
chr7	107383118	107385525	E081	9247
chr7	107383118	107385525	E082	9247

rs2188563

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs2188563 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs2188563 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)