rs11078523

Homo sapiens
T>C
LOC105371498 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0484 (14492/29936,GnomAD)
C=0453 (13211/29118,TOPMED)
C=0498 (2496/5008,1000G)
C=0492 (1896/3854,ALSPAC)
C=0485 (1797/3708,TWINSUK)
chr17:4619872 (GRCh38.p7) (17p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
37 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.4619872T>C
GRCh37.p13 chr 17NC_000017.10:g.4523167T>C
RNU6-955P pseudogeneNG_044813.1:g.81A>G

Gene: LOC105371498, uncharacterized LOC105371498(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371498 transcriptXR_001752766.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.626C=0.374
1000GenomesAmericanSub694T=0.530C=0.470
1000GenomesEast AsianSub1008T=0.324C=0.676
1000GenomesEuropeSub1006T=0.522C=0.478
1000GenomesGlobalStudy-wide5008T=0.502C=0.498
1000GenomesSouth AsianSub978T=0.470C=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.508C=0.492
The Genome Aggregation DatabaseAfricanSub8710T=0.593C=0.407
The Genome Aggregation DatabaseAmericanSub836T=0.550C=0.450
The Genome Aggregation DatabaseEast AsianSub1616T=0.377C=0.623
The Genome Aggregation DatabaseEuropeSub18474T=0.490C=0.509
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.515C=0.484
The Genome Aggregation DatabaseOtherSub300T=0.510C=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.546C=0.453
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.515C=0.485
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
rs110785230.000441alcohol dependence20201924

eQTL of rs11078523 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 rs11078523 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 )
chr1745106924511701E068-11466
chr1745117864511859E068-11308
chr1745118684511974E068-11193
chr1745119964512089E068-11078
chr1745517544551814E06828587
chr1745519874552673E06828820
chr1745514394551679E06928272
chr1745517544551814E06928587
chr1745519874552673E06928820
chr1745106924511701E070-11466
chr1745104614510690E071-12477
chr1745106924511701E071-11466
chr1745117864511859E071-11308
chr1745396624539867E07116495
chr1745399274540001E07116760
chr1745519874552673E07128820
chr1744978144498781E072-24386
chr1744988204498944E072-24223
chr1745519874552673E07228820
chr1745106924511701E073-11466
chr1745389554539035E07315788
chr1744978144498781E074-24386
chr1745104614510690E074-12477
chr1745106924511701E074-11466
chr1745117864511859E074-11308
chr1745118684511974E074-11193
chr1745519874552673E07428820
chr1744867704486996E081-36171
chr1745070014507061E081-16106
chr1745073984507980E081-15187
chr1745176784518053E081-5114
chr1745710024571411E08147835
chr1744853794485460E082-37707
chr1745073984507980E082-15187
chr1745082844508353E082-14814
chr1745083774508421E082-14746
chr1745106924511701E082-11466









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1744870624489124E069-34043
chr1744870624489124E070-34043
chr1745439244544056E07020757
chr1745442104544304E07121043
chr1744870624489124E072-34043
chr1744870624489124E073-34043
chr1744870624489124E082-34043
chr1745439244544056E08220757
chr1745442104544304E08221043