rs3010931

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0096 (2858/29784,GnomAD)
T=0138 (4020/29118,TOPMED)
T=0113 (565/5008,1000G)
T=0034 (130/3854,ALSPAC)
T=0034 (126/3708,TWINSUK)

Position: chr1:12624318 (GRCh38.p7) (1p36.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 162 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.12624318C>T
GRCh37.p13 chr 1	NC_000001.10:g.12684324C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.695	T=0.305
1000Genomes	American	Sub	694	C=0.960	T=0.040
1000Genomes	East Asian	Sub	1008	C=0.997	T=0.003
1000Genomes	Europe	Sub	1006	C=0.963	T=0.037
1000Genomes	Global	Study-wide	5008	C=0.887	T=0.113
1000Genomes	South Asian	Sub	978	C=0.900	T=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.966	T=0.034
The Genome Aggregation Database	African	Sub	8652	C=0.739	T=0.261
The Genome Aggregation Database	American	Sub	834	C=0.960	T=0.040
The Genome Aggregation Database	East Asian	Sub	1620	C=0.999	T=0.001
The Genome Aggregation Database	Europe	Sub	18376	C=0.970	T=0.029
The Genome Aggregation Database	Global	Study-wide	29784	C=0.904	T=0.096
The Genome Aggregation Database	Other	Sub	302	C=0.930	T=0.070
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.861	T=0.138
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.966	T=0.034

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
rs3010931	0.00039	alcohol dependence	20201924

eQTL of rs3010931 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 rs3010931 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 )
chr1	12651201	12651806	E067	-32518
chr1	12652388	12652472	E067	-31852
chr1	12657314	12657576	E067	-26748
chr1	12657869	12658120	E067	-26204
chr1	12661144	12661302	E067	-23022
chr1	12661326	12661719	E067	-22605
chr1	12661727	12662288	E067	-22036
chr1	12681681	12681816	E067	-2508
chr1	12681873	12682469	E067	-1855
chr1	12650907	12650981	E068	-33343
chr1	12651201	12651806	E068	-32518
chr1	12653631	12654026	E068	-30298
chr1	12654031	12654416	E068	-29908
chr1	12654419	12654469	E068	-29855
chr1	12654620	12654705	E068	-29619
chr1	12657314	12657576	E068	-26748
chr1	12657869	12658120	E068	-26204
chr1	12658264	12658349	E068	-25975
chr1	12658498	12658538	E068	-25786
chr1	12658640	12658703	E068	-25621
chr1	12658959	12659292	E068	-25032
chr1	12659424	12659490	E068	-24834
chr1	12659833	12659898	E068	-24426
chr1	12659989	12660048	E068	-24276
chr1	12660193	12660665	E068	-23659
chr1	12660827	12660920	E068	-23404
chr1	12661144	12661302	E068	-23022
chr1	12661326	12661719	E068	-22605
chr1	12661727	12662288	E068	-22036
chr1	12662409	12662470	E068	-21854
chr1	12662618	12662662	E068	-21662
chr1	12662742	12662815	E068	-21509
chr1	12663277	12663361	E068	-20963
chr1	12663887	12664006	E068	-20318
chr1	12668877	12668962	E068	-15362
chr1	12669142	12669196	E068	-15128
chr1	12669244	12669309	E068	-15015
chr1	12673336	12673376	E068	-10948
chr1	12680819	12680964	E068	-3360
chr1	12681578	12681622	E068	-2702
chr1	12681681	12681816	E068	-2508
chr1	12681873	12682469	E068	-1855
chr1	12682493	12682866	E068	-1458
chr1	12691809	12691883	E068	7485
chr1	12654031	12654416	E069	-29908
chr1	12654419	12654469	E069	-29855
chr1	12654620	12654705	E069	-29619
chr1	12657314	12657576	E069	-26748
chr1	12661727	12662288	E069	-22036
chr1	12691809	12691883	E069	7485
chr1	12641694	12641767	E070	-42557
chr1	12653631	12654026	E070	-30298
chr1	12654031	12654416	E070	-29908
chr1	12654419	12654469	E070	-29855
chr1	12654620	12654705	E070	-29619
chr1	12659424	12659490	E070	-24834
chr1	12659833	12659898	E070	-24426
chr1	12659989	12660048	E070	-24276
chr1	12660193	12660665	E070	-23659
chr1	12663887	12664006	E070	-20318
chr1	12664237	12664726	E070	-19598
chr1	12681681	12681816	E070	-2508
chr1	12681873	12682469	E070	-1855
chr1	12682493	12682866	E070	-1458
chr1	12689223	12690125	E070	4899
chr1	12641348	12641454	E071	-42870
chr1	12651201	12651806	E071	-32518
chr1	12652388	12652472	E071	-31852
chr1	12652581	12652711	E071	-31613
chr1	12652778	12652927	E071	-31397
chr1	12654031	12654416	E071	-29908
chr1	12654419	12654469	E071	-29855
chr1	12654620	12654705	E071	-29619
chr1	12657314	12657576	E071	-26748
chr1	12657869	12658120	E071	-26204
chr1	12658264	12658349	E071	-25975
chr1	12658498	12658538	E071	-25786
chr1	12658640	12658703	E071	-25621
chr1	12658959	12659292	E071	-25032
chr1	12659424	12659490	E071	-24834
chr1	12659833	12659898	E071	-24426
chr1	12659989	12660048	E071	-24276
chr1	12660193	12660665	E071	-23659
chr1	12660827	12660920	E071	-23404
chr1	12661144	12661302	E071	-23022
chr1	12661326	12661719	E071	-22605
chr1	12661727	12662288	E071	-22036
chr1	12662409	12662470	E071	-21854
chr1	12662618	12662662	E071	-21662
chr1	12662742	12662815	E071	-21509
chr1	12663277	12663361	E071	-20963
chr1	12669244	12669309	E071	-15015
chr1	12674089	12674498	E071	-9826
chr1	12680819	12680964	E071	-3360
chr1	12681578	12681622	E071	-2702
chr1	12681681	12681816	E071	-2508
chr1	12681873	12682469	E071	-1855
chr1	12682493	12682866	E071	-1458
chr1	12683342	12683571	E071	-753
chr1	12654031	12654416	E072	-29908
chr1	12654419	12654469	E072	-29855
chr1	12654620	12654705	E072	-29619
chr1	12661727	12662288	E072	-22036
chr1	12673336	12673376	E072	-10948
chr1	12673380	12673496	E072	-10828
chr1	12673571	12673659	E072	-10665
chr1	12650700	12650757	E073	-33567
chr1	12650907	12650981	E073	-33343
chr1	12651201	12651806	E073	-32518
chr1	12652388	12652472	E073	-31852
chr1	12652581	12652711	E073	-31613
chr1	12652778	12652927	E073	-31397
chr1	12653631	12654026	E073	-30298
chr1	12654031	12654416	E073	-29908
chr1	12654419	12654469	E073	-29855
chr1	12654620	12654705	E073	-29619
chr1	12657314	12657576	E073	-26748
chr1	12657869	12658120	E073	-26204
chr1	12658264	12658349	E073	-25975
chr1	12659424	12659490	E073	-24834
chr1	12660193	12660665	E073	-23659
chr1	12660827	12660920	E073	-23404
chr1	12661144	12661302	E073	-23022
chr1	12661326	12661719	E073	-22605
chr1	12661727	12662288	E073	-22036
chr1	12662409	12662470	E073	-21854
chr1	12662618	12662662	E073	-21662
chr1	12662742	12662815	E073	-21509
chr1	12669244	12669309	E073	-15015
chr1	12681681	12681816	E073	-2508
chr1	12681873	12682469	E073	-1855
chr1	12682493	12682866	E073	-1458
chr1	12650907	12650981	E074	-33343
chr1	12651201	12651806	E074	-32518
chr1	12654031	12654416	E074	-29908
chr1	12654419	12654469	E074	-29855
chr1	12654620	12654705	E074	-29619
chr1	12657314	12657576	E074	-26748
chr1	12657869	12658120	E074	-26204
chr1	12658264	12658349	E074	-25975
chr1	12658498	12658538	E074	-25786
chr1	12658640	12658703	E074	-25621
chr1	12658959	12659292	E074	-25032
chr1	12659424	12659490	E074	-24834
chr1	12659833	12659898	E074	-24426
chr1	12659989	12660048	E074	-24276
chr1	12660193	12660665	E074	-23659
chr1	12660827	12660920	E074	-23404
chr1	12661144	12661302	E074	-23022
chr1	12661326	12661719	E074	-22605
chr1	12661727	12662288	E074	-22036
chr1	12662409	12662470	E074	-21854
chr1	12662618	12662662	E074	-21662
chr1	12662742	12662815	E074	-21509
chr1	12663277	12663361	E074	-20963
chr1	12663887	12664006	E074	-20318
chr1	12668877	12668962	E074	-15362
chr1	12669142	12669196	E074	-15128
chr1	12669244	12669309	E074	-15015
chr1	12680819	12680964	E074	-3360
chr1	12681578	12681622	E081	-2702
chr1	12681681	12681816	E081	-2508

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	12675178	12680811	E067	-3513
chr1	12675178	12680811	E068	-3513
chr1	12675178	12680811	E069	-3513
chr1	12675178	12680811	E070	-3513
chr1	12675178	12680811	E071	-3513
chr1	12675178	12680811	E072	-3513
chr1	12675178	12680811	E073	-3513
chr1	12675178	12680811	E074	-3513
chr1	12675178	12680811	E082	-3513