rs7397684

Homo sapiens
A>G
KRT76 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0190 (5695/29954,GnomAD)
G=0154 (4510/29118,TOPMED)
G=0150 (752/5008,1000G)
G=0253 (974/3854,ALSPAC)
G=0256 (951/3708,TWINSUK)
chr12:52779289 (GRCh38.p7) (12q13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.52779289A>G
GRCh37.p13 chr 12NC_000012.11:g.53173073A>G
KRT76 RefSeqGeneNG_012420.1:g.3057T>C

Gene: KRT76, keratin 76(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
KRT76 transcriptNM_015848.4:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.989G=0.011
1000GenomesAmericanSub694A=0.820G=0.180
1000GenomesEast AsianSub1008A=0.873G=0.127
1000GenomesEuropeSub1006A=0.701G=0.299
1000GenomesGlobalStudy-wide5008A=0.850G=0.150
1000GenomesSouth AsianSub978A=0.810G=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.747G=0.253
The Genome Aggregation DatabaseAfricanSub8718A=0.953G=0.047
The Genome Aggregation DatabaseAmericanSub838A=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1620A=0.870G=0.130
The Genome Aggregation DatabaseEuropeSub18476A=0.737G=0.262
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.809G=0.190
The Genome Aggregation DatabaseOtherSub302A=0.770G=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.845G=0.154
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.744G=0.256
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs73976840.0000209alcoholismpha002893
rs73976840.000021alcohol dependence20201924
rs73976840.00049alcohol dependence(early age of onset)20201924

eQTL of rs7397684 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 rs7397684 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 )
chr125319769253197732E07024619
chr125319788353197990E07024810
chr125319402253194206E07320949
chr125318440053184450E08111327