rs703720

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0168 (5048/29938,GnomAD)
G==0166 (4841/29118,TOPMED)
G==0207 (1036/5008,1000G)
G==0196 (756/3854,ALSPAC)
G==0201 (744/3708,TWINSUK)

Position: chr12:101274049 (GRCh38.p7) (12q23.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 69 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.101274049G>T
GRCh37.p13 chr 12	NC_000012.11:g.101667827G>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.047	T=0.953
1000Genomes	American	Sub	694	G=0.260	T=0.740
1000Genomes	East Asian	Sub	1008	G=0.373	T=0.627
1000Genomes	Europe	Sub	1006	G=0.206	T=0.794
1000Genomes	Global	Study-wide	5008	G=0.207	T=0.793
1000Genomes	South Asian	Sub	978	G=0.220	T=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.196	T=0.804
The Genome Aggregation Database	African	Sub	8714	G=0.071	T=0.929
The Genome Aggregation Database	American	Sub	836	G=0.280	T=0.720
The Genome Aggregation Database	East Asian	Sub	1610	G=0.358	T=0.642
The Genome Aggregation Database	Europe	Sub	18476	G=0.191	T=0.808
The Genome Aggregation Database	Global	Study-wide	29938	G=0.168	T=0.831
The Genome Aggregation Database	Other	Sub	302	G=0.250	T=0.750
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.166	T=0.833
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.201	T=0.799

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

P-Value

SNP ID	p-value	Traits	Study
rs703720	7.49E-06	alcohol dependence (age at onset)	24962325

eQTL of rs703720 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 rs703720 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 )
chr12	101691390	101691641	E067	23563
chr12	101692002	101692211	E067	24175
chr12	101692243	101692491	E067	24416
chr12	101692002	101692211	E069	24175
chr12	101692243	101692491	E069	24416
chr12	101684127	101684167	E071	16300
chr12	101691390	101691641	E071	23563
chr12	101691390	101691641	E072	23563
chr12	101692002	101692211	E072	24175
chr12	101632145	101633097	E081	-34730
chr12	101633155	101633205	E081	-34622
chr12	101632145	101633097	E082	-34730
chr12	101633155	101633205	E082	-34622

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	101673164	101673326	E067	5337
chr12	101673369	101673461	E067	5542
chr12	101673570	101674315	E067	5743
chr12	101674460	101674520	E067	6633
chr12	101674561	101674663	E067	6734
chr12	101692853	101693016	E067	25026
chr12	101693076	101693399	E067	25249
chr12	101693724	101694082	E067	25897
chr12	101673164	101673326	E068	5337
chr12	101673369	101673461	E068	5542
chr12	101673570	101674315	E068	5743
chr12	101674460	101674520	E068	6633
chr12	101674561	101674663	E068	6734
chr12	101692853	101693016	E068	25026
chr12	101693076	101693399	E068	25249
chr12	101673164	101673326	E069	5337
chr12	101673369	101673461	E069	5542
chr12	101673570	101674315	E069	5743
chr12	101674460	101674520	E069	6633
chr12	101674561	101674663	E069	6734
chr12	101692853	101693016	E069	25026
chr12	101693076	101693399	E069	25249
chr12	101693724	101694082	E069	25897
chr12	101673164	101673326	E070	5337
chr12	101673369	101673461	E070	5542
chr12	101673570	101674315	E070	5743
chr12	101674460	101674520	E070	6633
chr12	101674561	101674663	E070	6734
chr12	101673056	101673115	E071	5229
chr12	101673121	101673150	E071	5294
chr12	101673164	101673326	E071	5337
chr12	101673369	101673461	E071	5542
chr12	101673570	101674315	E071	5743
chr12	101674460	101674520	E071	6633
chr12	101674561	101674663	E071	6734
chr12	101692853	101693016	E071	25026
chr12	101693076	101693399	E071	25249
chr12	101693724	101694082	E071	25897
chr12	101673164	101673326	E072	5337
chr12	101673369	101673461	E072	5542
chr12	101673570	101674315	E072	5743
chr12	101674460	101674520	E072	6633
chr12	101674561	101674663	E072	6734
chr12	101692853	101693016	E072	25026
chr12	101693076	101693399	E072	25249
chr12	101673164	101673326	E073	5337
chr12	101673369	101673461	E073	5542
chr12	101673570	101674315	E073	5743
chr12	101674460	101674520	E073	6633
chr12	101674561	101674663	E073	6734
chr12	101673164	101673326	E074	5337
chr12	101673369	101673461	E074	5542
chr12	101673570	101674315	E074	5743
chr12	101674460	101674520	E074	6633
chr12	101674561	101674663	E074	6734
chr12	101692853	101693016	E074	25026
chr12	101693076	101693399	E074	25249
chr12	101693724	101694082	E074	25897
chr12	101673369	101673461	E081	5542
chr12	101673570	101674315	E081	5743
chr12	101674460	101674520	E081	6633
chr12	101674561	101674663	E081	6734
chr12	101673056	101673115	E082	5229
chr12	101673121	101673150	E082	5294
chr12	101673164	101673326	E082	5337
chr12	101673369	101673461	E082	5542
chr12	101673570	101674315	E082	5743
chr12	101674460	101674520	E082	6633
chr12	101674561	101674663	E082	6734