rs11099428

Homo sapiens
C>T
LOC105377441 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0228 (6839/29936,GnomAD)
C==0223 (6509/29118,TOPMED)
C==0211 (1057/5008,1000G)
C==0229 (882/3854,ALSPAC)
C==0233 (865/3708,TWINSUK)
chr4:137201200 (GRCh38.p7) (4q28.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.137201200C>T
GRCh37.p13 chr 4NC_000004.11:g.138122354C>T

Gene: LOC105377441, uncharacterized LOC105377441(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377441 transcript variant X1XR_001741835.1:n.N/AIntron Variant
LOC105377441 transcript variant X2XR_001741836.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.171T=0.829
1000GenomesAmericanSub694C=0.360T=0.640
1000GenomesEast AsianSub1008C=0.132T=0.868
1000GenomesEuropeSub1006C=0.250T=0.750
1000GenomesGlobalStudy-wide5008C=0.211T=0.789
1000GenomesSouth AsianSub978C=0.200T=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.229T=0.771
The Genome Aggregation DatabaseAfricanSub8720C=0.198T=0.802
The Genome Aggregation DatabaseAmericanSub838C=0.340T=0.660
The Genome Aggregation DatabaseEast AsianSub1616C=0.119T=0.881
The Genome Aggregation DatabaseEuropeSub18460C=0.248T=0.751
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.228T=0.771
The Genome Aggregation DatabaseOtherSub302C=0.150T=0.850
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.223T=0.776
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.233T=0.767
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs110994281.47E-05alcohol consumption23743675

eQTL of rs11099428 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 rs11099428 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 )
chr4138127852138128346E0705498
chr4138127852138128346E0745498
chr4138134603138134662E07412249
chr4138134825138135023E07412471
chr4138127852138128346E0815498
chr4138127852138128346E0825498