rs1684716

Homo sapiens
T>A / T>G
None
Check p-value
SNV (Single Nucleotide Variation)
T==0401 (11986/29850,GnomAD)
T==0346 (10094/29118,TOPMED)
T==0340 (1705/5008,1000G)
T==0459 (1769/3854,ALSPAC)
T==0461 (1711/3708,TWINSUK)
chr14:42028828 (GRCh38.p7) (14q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.42028828T>A
GRCh38.p7 chr 14NC_000014.9:g.42028828T>G
GRCh37.p13 chr 14NC_000014.8:g.42498031T>A
GRCh37.p13 chr 14NC_000014.8:g.42498031T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.213G=0.787
1000GenomesAmericanSub694T=0.350G=0.650
1000GenomesEast AsianSub1008T=0.265G=0.735
1000GenomesEuropeSub1006T=0.499G=0.501
1000GenomesGlobalStudy-wide5008T=0.340G=0.660
1000GenomesSouth AsianSub978T=0.420G=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.459G=0.541
The Genome Aggregation DatabaseAfricanSub8702T=0.237G=0.763
The Genome Aggregation DatabaseAmericanSub838T=0.330G=0.670
The Genome Aggregation DatabaseEast AsianSub1616T=0.293G=0.707
The Genome Aggregation DatabaseEuropeSub18392T=0.490G=0.509
The Genome Aggregation DatabaseGlobalStudy-wide29850T=0.401G=0.598
The Genome Aggregation DatabaseOtherSub302T=0.480G=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.346G=0.653
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.461G=0.539
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs16847166.8E-06alcoholism (heaviness of drinking)21529783

eQTL of rs1684716 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 rs1684716 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 )
chr149225442092254544E0684836
chr149225467792254972E0685093
chr149229583692295934E07046252
chr149229596392296134E07046379
chr149229616292296305E07046578
chr149229644592296508E07046861
chr149229680592296923E07047221
chr149229715492297487E07047570
chr149225442092254544E0744836
chr149225467792254972E0745093
chr149225508092255129E0745496