rs2375511

Homo sapiens
C>A
THSD7B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0240 (7170/29858,GnomAD)
A=0234 (6814/29118,TOPMED)
A=0203 (1018/5008,1000G)
A=0253 (975/3854,ALSPAC)
A=0246 (912/3708,TWINSUK)
chr2:137491882 (GRCh38.p7) (2q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.137491882C>A
GRCh37.p13 chr 2NC_000002.11:g.138249452C>A

Gene: THSD7B, thrombospondin type 1 domain containing 7B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
THSD7B transcriptNM_001316349.1:c.N/AIntron Variant
THSD7B transcript variant X1XM_017005049.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.805A=0.195
1000GenomesAmericanSub694C=0.810A=0.190
1000GenomesEast AsianSub1008C=0.901A=0.099
1000GenomesEuropeSub1006C=0.744A=0.256
1000GenomesGlobalStudy-wide5008C=0.797A=0.203
1000GenomesSouth AsianSub978C=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.747A=0.253
The Genome Aggregation DatabaseAfricanSub8692C=0.773A=0.227
The Genome Aggregation DatabaseAmericanSub838C=0.830A=0.170
The Genome Aggregation DatabaseEast AsianSub1616C=0.905A=0.095
The Genome Aggregation DatabaseEuropeSub18412C=0.737A=0.262
The Genome Aggregation DatabaseGlobalStudy-wide29858C=0.759A=0.240
The Genome Aggregation DatabaseOtherSub300C=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.766A=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.754A=0.246
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
rs23755110.00061alcohol dependence20201924

eQTL of rs2375511 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 rs2375511 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 )
chr2138280872138281177E08131420
chr2138281567138281953E08132115
chr2138282462138282889E08133010
chr2138283327138283398E08133875
chr2138282462138282889E08233010