rs278496

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0417 (12463/29872,GnomAD)
T==0473 (13798/29118,TOPMED)
T==0404 (2025/5008,1000G)
T==0338 (1304/3854,ALSPAC)
T==0346 (1284/3708,TWINSUK)
chr5:100764453 (GRCh38.p7) (5q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.100764453T>C
GRCh37.p13 chr 5NC_000005.9:g.100100157T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.719C=0.281
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.197C=0.803
1000GenomesEuropeSub1006T=0.309C=0.691
1000GenomesGlobalStudy-wide5008T=0.404C=0.596
1000GenomesSouth AsianSub978T=0.250C=0.750
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.338C=0.662
The Genome Aggregation DatabaseAfricanSub8698T=0.637C=0.363
The Genome Aggregation DatabaseAmericanSub834T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1604T=0.167C=0.833
The Genome Aggregation DatabaseEuropeSub18434T=0.337C=0.662
The Genome Aggregation DatabaseGlobalStudy-wide29872T=0.417C=0.582
The Genome Aggregation DatabaseOtherSub302T=0.250C=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.473C=0.526
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.346C=0.654
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
rs2784960.00093alcohol dependence20201924

eQTL of rs278496 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 rs278496 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 )
chr5100125570100126393E06925413
chr5100082554100082694E070-17463
chr5100083342100083396E070-16761
chr5100107751100107847E0707594
chr5100107935100107999E0707778
chr5100108296100108795E0708139
chr5100139173100139383E07139016
chr5100125570100126393E07425413
chr5100085760100085867E082-14290
chr5100085987100086148E082-14009