rs760943

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0096 (2891/29914,GnomAD)
C=0094 (2763/29118,TOPMED)
C=0127 (634/5008,1000G)
C=0063 (243/3854,ALSPAC)
C=0067 (250/3708,TWINSUK)

Position: chr1:12538404 (GRCh38.p7) (1p36.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 116 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.12538404T>C
GRCh37.p13 chr 1	NC_000001.10:g.12598434T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.847	C=0.153
1000Genomes	American	Sub	694	T=0.910	C=0.090
1000Genomes	East Asian	Sub	1008	T=0.820	C=0.180
1000Genomes	Europe	Sub	1006	T=0.925	C=0.075
1000Genomes	Global	Study-wide	5008	T=0.873	C=0.127
1000Genomes	South Asian	Sub	978	T=0.880	C=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.937	C=0.063
The Genome Aggregation Database	African	Sub	8692	T=0.853	C=0.147
The Genome Aggregation Database	American	Sub	836	T=0.890	C=0.110
The Genome Aggregation Database	East Asian	Sub	1616	T=0.831	C=0.169
The Genome Aggregation Database	Europe	Sub	18468	T=0.934	C=0.065
The Genome Aggregation Database	Global	Study-wide	29914	T=0.903	C=0.096
The Genome Aggregation Database	Other	Sub	302	T=0.850	C=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.905	C=0.094
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.933	C=0.067

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs760943	6.2E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs760943 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 rs760943 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	12565346	12565647	E067	-32787
chr1	12566109	12566254	E067	-32180
chr1	12566397	12566659	E067	-31775
chr1	12578817	12579656	E067	-18778
chr1	12585437	12585818	E067	-12616
chr1	12585917	12586025	E067	-12409
chr1	12565346	12565647	E068	-32787
chr1	12566109	12566254	E068	-32180
chr1	12566397	12566659	E068	-31775
chr1	12570249	12571353	E068	-27081
chr1	12571696	12571803	E068	-26631
chr1	12571861	12571930	E068	-26504
chr1	12578817	12579656	E068	-18778
chr1	12579701	12579890	E068	-18544
chr1	12585437	12585818	E068	-12616
chr1	12585917	12586025	E068	-12409
chr1	12587638	12587932	E068	-10502
chr1	12588053	12588140	E068	-10294
chr1	12618294	12618423	E068	19860
chr1	12618504	12618589	E068	20070
chr1	12564464	12564955	E069	-33479
chr1	12565346	12565647	E069	-32787
chr1	12566109	12566254	E069	-32180
chr1	12566397	12566659	E069	-31775
chr1	12572012	12572072	E069	-26362
chr1	12572084	12572411	E069	-26023
chr1	12579701	12579890	E069	-18544
chr1	12585437	12585818	E069	-12616
chr1	12585917	12586025	E069	-12409
chr1	12616269	12617022	E069	17835
chr1	12617068	12617308	E069	18634
chr1	12617341	12617433	E069	18907
chr1	12625034	12625089	E069	26600
chr1	12625143	12625740	E069	26709
chr1	12565346	12565647	E070	-32787
chr1	12599865	12600892	E070	1431
chr1	12600916	12600956	E070	2482
chr1	12601048	12601163	E070	2614
chr1	12601228	12601402	E070	2794
chr1	12601455	12601534	E070	3021
chr1	12601566	12601926	E070	3132
chr1	12602186	12602251	E070	3752
chr1	12602360	12602404	E070	3926
chr1	12602497	12602557	E070	4063
chr1	12602748	12602806	E070	4314
chr1	12609035	12610413	E070	10601
chr1	12612941	12614100	E070	14507
chr1	12614119	12614215	E070	15685
chr1	12614407	12614492	E070	15973
chr1	12614543	12614621	E070	16109
chr1	12625034	12625089	E070	26600
chr1	12625143	12625740	E070	26709
chr1	12641694	12641767	E070	43260
chr1	12562466	12562520	E071	-35914
chr1	12564464	12564955	E071	-33479
chr1	12565346	12565647	E071	-32787
chr1	12566109	12566254	E071	-32180
chr1	12566397	12566659	E071	-31775
chr1	12585437	12585818	E071	-12616
chr1	12585917	12586025	E071	-12409
chr1	12599865	12600892	E071	1431
chr1	12600916	12600956	E071	2482
chr1	12601048	12601163	E071	2614
chr1	12601228	12601402	E071	2794
chr1	12601455	12601534	E071	3021
chr1	12601566	12601926	E071	3132
chr1	12602186	12602251	E071	3752
chr1	12602360	12602404	E071	3926
chr1	12602497	12602557	E071	4063
chr1	12612941	12614100	E071	14507
chr1	12614119	12614215	E071	15685
chr1	12616269	12617022	E071	17835
chr1	12617068	12617308	E071	18634
chr1	12625034	12625089	E071	26600
chr1	12641348	12641454	E071	42914
chr1	12564464	12564955	E072	-33479
chr1	12565346	12565647	E072	-32787
chr1	12566109	12566254	E072	-32180
chr1	12566397	12566659	E072	-31775
chr1	12625034	12625089	E072	26600
chr1	12625143	12625740	E072	26709
chr1	12565346	12565647	E073	-32787
chr1	12566109	12566254	E073	-32180
chr1	12571696	12571803	E073	-26631
chr1	12571861	12571930	E073	-26504
chr1	12572012	12572072	E073	-26362
chr1	12572084	12572411	E073	-26023
chr1	12606800	12606955	E073	8366
chr1	12607150	12607232	E073	8716
chr1	12607259	12607423	E073	8825
chr1	12607541	12607745	E073	9107
chr1	12607834	12607911	E073	9400
chr1	12612941	12614100	E073	14507
chr1	12614119	12614215	E073	15685
chr1	12625034	12625089	E073	26600
chr1	12564464	12564955	E074	-33479
chr1	12565346	12565647	E074	-32787
chr1	12566109	12566254	E074	-32180
chr1	12566397	12566659	E074	-31775
chr1	12566771	12567231	E074	-31203
chr1	12570249	12571353	E074	-27081
chr1	12571417	12571641	E074	-26793
chr1	12571696	12571803	E074	-26631
chr1	12571861	12571930	E074	-26504
chr1	12573207	12573658	E074	-24776
chr1	12573785	12573859	E074	-24575
chr1	12585437	12585818	E074	-12616
chr1	12585917	12586025	E074	-12409
chr1	12606800	12606955	E074	8366
chr1	12612380	12612494	E081	13946
chr1	12612672	12612741	E081	14238
chr1	12612744	12612827	E081	14310
chr1	12612941	12614100	E081	14507
chr1	12625034	12625089	E081	26600
chr1	12625143	12625740	E081	26709
chr1	12578817	12579656	E082	-18778