rs12947697

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0043 (1309/29978,GnomAD)
T=0035 (1043/29116,TOPMED)
T=0028 (139/5008,1000G)
T=0064 (246/3854,ALSPAC)
T=0063 (233/3708,TWINSUK)

Position: chr17:7186298 (GRCh38.p7) (17p13.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 87 Enhancers around

Promoter: 42 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 17	NC_000017.11:g.7186298C>T
GRCh37.p13 chr 17	NC_000017.10:g.7089617C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.999	T=0.001
1000Genomes	American	Sub	694	C=0.960	T=0.040
1000Genomes	East Asian	Sub	1008	C=1.000	T=0.000
1000Genomes	Europe	Sub	1006	C=0.934	T=0.066
1000Genomes	Global	Study-wide	5008	C=0.972	T=0.028
1000Genomes	South Asian	Sub	978	C=0.950	T=0.050
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.936	T=0.064
The Genome Aggregation Database	African	Sub	8728	C=0.989	T=0.011
The Genome Aggregation Database	American	Sub	838	C=0.970	T=0.030
The Genome Aggregation Database	East Asian	Sub	1622	C=0.999	T=0.001
The Genome Aggregation Database	Europe	Sub	18488	C=0.936	T=0.063
The Genome Aggregation Database	Global	Study-wide	29978	C=0.956	T=0.043
The Genome Aggregation Database	Other	Sub	302	C=0.960	T=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.964	T=0.035
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.937	T=0.063

PMID	Title	Author	Journal
22481050	Genetic influences on craving for alcohol.	Agrawal A	Addict Behav

SNP ID	p-value	Traits	Study
rs12947697	3.19E-05	alcohol craving with or without dependence	22481050

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 )
chr17	7135293	7135357	E067	45676
chr17	7049231	7049281	E068	-40336
chr17	7049564	7049759	E068	-39858
chr17	7050174	7050283	E068	-39334
chr17	7109540	7109646	E068	19923
chr17	7109690	7110435	E068	20073
chr17	7110514	7112172	E068	20897
chr17	7112189	7112537	E068	22572
chr17	7112627	7112799	E068	23010
chr17	7112869	7112913	E068	23252
chr17	7113361	7113573	E068	23744
chr17	7113588	7113638	E068	23971
chr17	7113708	7113764	E068	24091
chr17	7113829	7113962	E068	24212
chr17	7114029	7114215	E068	24412
chr17	7132238	7132376	E068	42621
chr17	7138639	7139429	E068	49022
chr17	7077208	7078770	E069	-10847
chr17	7078794	7079094	E069	-10523
chr17	7109540	7109646	E069	19923
chr17	7110514	7112172	E069	20897
chr17	7112189	7112537	E069	22572
chr17	7135293	7135357	E069	45676
chr17	7135360	7135528	E069	45743
chr17	7076999	7077115	E070	-12502
chr17	7077208	7078770	E070	-10847
chr17	7078794	7079094	E070	-10523
chr17	7106876	7107128	E070	17259
chr17	7109690	7110435	E070	20073
chr17	7110514	7112172	E070	20897
chr17	7112189	7112537	E070	22572
chr17	7116470	7116558	E070	26853
chr17	7135293	7135357	E070	45676
chr17	7109109	7109430	E071	19492
chr17	7109540	7109646	E071	19923
chr17	7135293	7135357	E071	45676
chr17	7135360	7135528	E071	45743
chr17	7077208	7078770	E072	-10847
chr17	7078794	7079094	E072	-10523
chr17	7106876	7107128	E072	17259
chr17	7109690	7110435	E072	20073
chr17	7110514	7112172	E072	20897
chr17	7112189	7112537	E072	22572
chr17	7112627	7112799	E072	23010
chr17	7135360	7135528	E072	45743
chr17	7110514	7112172	E073	20897
chr17	7112189	7112537	E073	22572
chr17	7112627	7112799	E073	23010
chr17	7135293	7135357	E074	45676
chr17	7135360	7135528	E074	45743
chr17	7077208	7078770	E081	-10847
chr17	7094613	7095371	E081	4996
chr17	7095381	7095461	E081	5764
chr17	7095558	7095885	E081	5941
chr17	7096061	7096122	E081	6444
chr17	7096243	7096283	E081	6626
chr17	7096515	7096559	E081	6898
chr17	7096654	7096727	E081	7037
chr17	7096781	7096869	E081	7164
chr17	7106591	7106828	E081	16974
chr17	7106876	7107128	E081	17259
chr17	7109109	7109430	E081	19492
chr17	7109540	7109646	E081	19923
chr17	7110514	7112172	E081	20897
chr17	7114029	7114215	E081	24412
chr17	7114267	7114410	E081	24650
chr17	7114482	7116171	E081	24865
chr17	7116470	7116558	E081	26853
chr17	7134372	7134481	E081	44755
chr17	7135293	7135357	E081	45676
chr17	7135360	7135528	E081	45743
chr17	7077208	7078770	E082	-10847
chr17	7078794	7079094	E082	-10523
chr17	7094613	7095371	E082	4996
chr17	7095381	7095461	E082	5764
chr17	7095558	7095885	E082	5941
chr17	7096061	7096122	E082	6444
chr17	7096243	7096283	E082	6626
chr17	7096515	7096559	E082	6898
chr17	7096654	7096727	E082	7037
chr17	7096781	7096869	E082	7164
chr17	7106426	7106537	E082	16809
chr17	7106591	7106828	E082	16974
chr17	7106876	7107128	E082	17259
chr17	7109690	7110435	E082	20073
chr17	7110514	7112172	E082	20897
chr17	7134875	7134974	E082	45258

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr17	7079964	7080259	E067	-9358
chr17	7080283	7081901	E067	-7716
chr17	7107140	7109069	E067	17523
chr17	7136845	7136948	E067	47228
chr17	7137016	7138526	E067	47399
chr17	7107140	7109069	E068	17523
chr17	7136845	7136948	E068	47228
chr17	7137016	7138526	E068	47399
chr17	7080283	7081901	E069	-7716
chr17	7107140	7109069	E069	17523
chr17	7136845	7136948	E069	47228
chr17	7137016	7138526	E069	47399
chr17	7079964	7080259	E070	-9358
chr17	7080283	7081901	E070	-7716
chr17	7107140	7109069	E070	17523
chr17	7136845	7136948	E070	47228
chr17	7137016	7138526	E070	47399
chr17	7080283	7081901	E071	-7716
chr17	7107140	7109069	E071	17523
chr17	7136845	7136948	E071	47228
chr17	7137016	7138526	E071	47399
chr17	7079964	7080259	E072	-9358
chr17	7080283	7081901	E072	-7716
chr17	7107140	7109069	E072	17523
chr17	7136845	7136948	E072	47228
chr17	7137016	7138526	E072	47399
chr17	7079964	7080259	E073	-9358
chr17	7080283	7081901	E073	-7716
chr17	7107140	7109069	E073	17523
chr17	7136845	7136948	E073	47228
chr17	7137016	7138526	E073	47399
chr17	7107140	7109069	E074	17523
chr17	7136845	7136948	E074	47228
chr17	7137016	7138526	E074	47399
chr17	7079964	7080259	E081	-9358
chr17	7080283	7081901	E081	-7716
chr17	7136845	7136948	E081	47228
chr17	7079964	7080259	E082	-9358
chr17	7080283	7081901	E082	-7716
chr17	7107140	7109069	E082	17523
chr17	7136845	7136948	E082	47228
chr17	7137016	7138526	E082	47399

rs12947697

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs12947697 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs12947697 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)