rs1030891

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0181 (5369/29608,GnomAD)
G=0183 (5347/29118,TOPMED)
G=0239 (1195/5008,1000G)
G=0143 (553/3854,ALSPAC)
G=0131 (487/3708,TWINSUK)

Position: chr2:239618071 (GRCh38.p7) (2q37.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 77 Enhancers around

Promoter: 2 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.239618071A>G
GRCh37.p13 chr 2	NC_000002.11:g.240539765A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.822	G=0.178
1000Genomes	American	Sub	694	A=0.640	G=0.360
1000Genomes	East Asian	Sub	1008	A=0.619	G=0.381
1000Genomes	Europe	Sub	1006	A=0.843	G=0.157
1000Genomes	Global	Study-wide	5008	A=0.761	G=0.239
1000Genomes	South Asian	Sub	978	A=0.830	G=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.857	G=0.143
The Genome Aggregation Database	African	Sub	8706	A=0.820	G=0.180
The Genome Aggregation Database	American	Sub	814	A=0.660	G=0.340
The Genome Aggregation Database	East Asian	Sub	1614	A=0.631	G=0.369
The Genome Aggregation Database	Europe	Sub	18176	A=0.840	G=0.159
The Genome Aggregation Database	Global	Study-wide	29608	A=0.818	G=0.181
The Genome Aggregation Database	Other	Sub	298	A=0.880	G=0.120
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.816	G=0.183
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.869	G=0.131

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs1030891	0.00021	alcohol dependence(Early Onset)	20201924
rs1030891	0.00074	alcohol dependence	20201924

eQTL of rs1030891 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 rs1030891 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 )
chr2	240495781	240495831	E067	-43934
chr2	240496299	240496700	E067	-43065
chr2	240496785	240496868	E067	-42897
chr2	240496299	240496700	E068	-43065
chr2	240496785	240496868	E068	-42897
chr2	240510527	240510816	E068	-28949
chr2	240510866	240511014	E068	-28751
chr2	240531025	240531096	E068	-8669
chr2	240531507	240531657	E068	-8108
chr2	240496299	240496700	E069	-43065
chr2	240496785	240496868	E069	-42897
chr2	240510527	240510816	E069	-28949
chr2	240510866	240511014	E069	-28751
chr2	240511263	240511381	E069	-28384
chr2	240515477	240515535	E069	-24230
chr2	240515813	240516100	E069	-23665
chr2	240530823	240530913	E069	-8852
chr2	240531025	240531096	E069	-8669
chr2	240510527	240510816	E070	-28949
chr2	240510866	240511014	E070	-28751
chr2	240515477	240515535	E070	-24230
chr2	240515813	240516100	E070	-23665
chr2	240517983	240518060	E070	-21705
chr2	240518112	240518260	E070	-21505
chr2	240518313	240518353	E070	-21412
chr2	240531025	240531096	E070	-8669
chr2	240531507	240531657	E070	-8108
chr2	240531799	240531849	E070	-7916
chr2	240496299	240496700	E071	-43065
chr2	240496785	240496868	E071	-42897
chr2	240510527	240510816	E071	-28949
chr2	240510866	240511014	E071	-28751
chr2	240530823	240530913	E071	-8852
chr2	240531025	240531096	E071	-8669
chr2	240496299	240496700	E072	-43065
chr2	240496785	240496868	E072	-42897
chr2	240510527	240510816	E072	-28949
chr2	240510866	240511014	E072	-28751
chr2	240511263	240511381	E072	-28384
chr2	240530823	240530913	E072	-8852
chr2	240531025	240531096	E072	-8669
chr2	240531507	240531657	E072	-8108
chr2	240495781	240495831	E074	-43934
chr2	240496299	240496700	E074	-43065
chr2	240496785	240496868	E074	-42897
chr2	240510866	240511014	E074	-28751
chr2	240511263	240511381	E074	-28384
chr2	240515112	240515162	E081	-24603
chr2	240515477	240515535	E081	-24230
chr2	240515813	240516100	E081	-23665
chr2	240517983	240518060	E081	-21705
chr2	240518112	240518260	E081	-21505
chr2	240518313	240518353	E081	-21412
chr2	240530823	240530913	E081	-8852
chr2	240531025	240531096	E081	-8669
chr2	240548188	240548271	E081	8423
chr2	240548404	240548648	E081	8639
chr2	240548778	240548870	E081	9013
chr2	240549014	240549180	E081	9249
chr2	240549311	240549428	E081	9546
chr2	240549533	240549583	E081	9768
chr2	240552595	240552953	E081	12830
chr2	240583578	240583688	E081	43813
chr2	240584216	240584350	E081	44451
chr2	240584591	240584699	E081	44826
chr2	240489960	240490000	E082	-49765
chr2	240490010	240490132	E082	-49633
chr2	240515477	240515535	E082	-24230
chr2	240517983	240518060	E082	-21705
chr2	240518112	240518260	E082	-21505
chr2	240518313	240518353	E082	-21412
chr2	240519144	240519194	E082	-20571
chr2	240548404	240548648	E082	8639
chr2	240548778	240548870	E082	9013
chr2	240549014	240549180	E082	9249
chr2	240549311	240549428	E082	9546
chr2	240584591	240584699	E082	44826

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	240582168	240582480	E067	42403
chr2	240582168	240582480	E072	42403