rs17428139

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0229 (6855/29880,GnomAD)
T=0199 (5794/29118,TOPMED)
T=0158 (793/5008,1000G)
T=0265 (1023/3854,ALSPAC)
T=0275 (1020/3708,TWINSUK)
chr4:67401719 (GRCh38.p7) (4q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
26 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.67401719C>T
GRCh37.p13 chr 4NC_000004.11:g.68267437C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.891T=0.109
1000GenomesAmericanSub694C=0.830T=0.170
1000GenomesEast AsianSub1008C=0.893T=0.107
1000GenomesEuropeSub1006C=0.748T=0.252
1000GenomesGlobalStudy-wide5008C=0.842T=0.158
1000GenomesSouth AsianSub978C=0.820T=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.735T=0.265
The Genome Aggregation DatabaseAfricanSub8708C=0.871T=0.129
The Genome Aggregation DatabaseAmericanSub834C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1608C=0.879T=0.121
The Genome Aggregation DatabaseEuropeSub18430C=0.710T=0.289
The Genome Aggregation DatabaseGlobalStudy-wide29880C=0.770T=0.229
The Genome Aggregation DatabaseOtherSub300C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.801T=0.199
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.725T=0.275
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
rs174281390.000995alcohol dependence20201924

eQTL of rs17428139 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:68267437RP11-584P21.2ENSG00000250075.1C>T1.9314e-5-66532Frontal_Cortex_BA9
Chr4:68267437RP11-584P21.2ENSG00000250075.1C>T9.9897e-5-66532Cortex

meQTL of rs17428139 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 )
chr46830252468302708E06735087
chr46830369068303910E06736253
chr46830397768304613E06736540
chr46824032168240784E068-26653
chr46825164768251731E069-15706
chr46830252468302708E06935087
chr46830369068303910E06936253
chr46830397768304613E06936540
chr46823348468233579E070-33858
chr46823379768233929E070-33508
chr46824023868240282E071-27155
chr46824032168240784E071-26653
chr46825164768251731E071-15706
chr46830252468302708E07135087
chr46830369068303910E07236253
chr46830397768304613E07236540
chr46824023868240282E074-27155
chr46824032168240784E074-26653
chr46830252468302708E07435087
chr46830369068303910E07436253
chr46830397768304613E07436540
chr46826249068262551E081-4886
chr46826808668268203E081649
chr46826260468263390E082-4047
chr46826759168267949E082154
chr46826808668268203E082649









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr46831200668312191E08244569