rs2513929

Homo sapiens
C>T
LOC101927245 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0237 (7114/29956,GnomAD)
T=0226 (6604/29118,TOPMED)
T=0288 (1442/5008,1000G)
T=0223 (859/3854,ALSPAC)
T=0220 (817/3708,TWINSUK)
chr8:102702118 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
36 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.102702118C>T
GRCh37.p13 chr 8NC_000008.10:g.103714346C>T

Gene: LOC101927245, uncharacterized LOC101927245(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101927245 transcript variant X1XM_011517419.2:c.N/AGenic Downstream Transcript Variant
LOC101927245 transcript variant X3XM_011517420.2:c.N/AGenic Downstream Transcript Variant
LOC101927245 transcript variant X9XR_001746024.1:n.N/AIntron Variant
LOC101927245 transcript variant X11XR_001746025.1:n.N/AIntron Variant
LOC101927245 transcript variant X12XR_001746026.1:n.N/AIntron Variant
LOC101927245 transcript variant X4XR_928481.2:n.N/AIntron Variant
LOC101927245 transcript variant X5XR_928483.2:n.N/AIntron Variant
LOC101927245 transcript variant X10XR_928489.2:n.N/AIntron Variant
LOC101927245 transcript variant X7XR_001746023.1:n.N/AGenic Downstream Transcript Variant
LOC101927245 transcript variant X2XR_928480.2:n.N/AGenic Downstream Transcript Variant
LOC101927245 transcript variant X6XR_928482.2:n.N/AGenic Downstream Transcript Variant
LOC101927245 transcript variant X8XR_928484.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.714T=0.286
1000GenomesAmericanSub694C=0.700T=0.300
1000GenomesEast AsianSub1008C=0.634T=0.366
1000GenomesEuropeSub1006C=0.795T=0.205
1000GenomesGlobalStudy-wide5008C=0.712T=0.288
1000GenomesSouth AsianSub978C=0.710T=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.777T=0.223
The Genome Aggregation DatabaseAfricanSub8710C=0.753T=0.247
The Genome Aggregation DatabaseAmericanSub838C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1608C=0.613T=0.387
The Genome Aggregation DatabaseEuropeSub18498C=0.783T=0.216
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.762T=0.237
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.773T=0.226
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.780T=0.220
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs25139290.000707alcohol dependence21314694

eQTL of rs2513929 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 rs2513929 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 )
chr8103740024103740293E06725678
chr8103740319103742877E06725973
chr8103751357103751502E06737011
chr8103751570103751663E06737224
chr8103751823103751926E06737477
chr8103740024103740293E06825678
chr8103740319103742877E06825973
chr8103751357103751502E06837011
chr8103751570103751663E06837224
chr8103751823103751926E06837477
chr8103761864103762715E06847518
chr8103674601103675610E069-38736
chr8103740024103740293E06925678
chr8103740319103742877E06925973
chr8103751357103751502E06937011
chr8103751570103751663E06937224
chr8103737620103737967E07023274
chr8103740319103742877E07025973
chr8103674242103674282E071-40064
chr8103674601103675610E071-38736
chr8103740024103740293E07125678
chr8103740319103742877E07125973
chr8103751357103751502E07137011
chr8103751570103751663E07137224
chr8103751823103751926E07137477
chr8103740319103742877E07225973
chr8103740319103742877E07325973
chr8103751357103751502E07337011
chr8103751570103751663E07337224
chr8103751823103751926E07337477
chr8103752138103752951E07337792
chr8103674601103675610E074-38736
chr8103740319103742877E07425973
chr8103757245103758253E07442899
chr8103740319103742877E08125973
chr8103740319103742877E08225973










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8103665324103671158E067-43188
chr8103665324103671158E068-43188
chr8103665324103671158E069-43188
chr8103665324103671158E070-43188
chr8103665324103671158E071-43188
chr8103665324103671158E072-43188
chr8103665324103671158E073-43188
chr8103665324103671158E074-43188
chr8103665324103671158E082-43188