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WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 213

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
TSP2 cis Discovery rs3763267 6:169,571,693 T/C 0.11 994 0.607 0.067 8.6×10-19 1.220 3.7×10-19 1.8×10-15
TSP2 cis Replication rs73038079 6:169,573,835 G/A 0.09 337 0.196 0.087 0.025 1.120 0.011 0.078

 

Regional association plots

 

Boxplots and histograms for top associations

Thrombospondin-2 (TSP2)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Thrombospondin-2 (TSP2)

Target (abbrv.) TSP2
Target (full name) Thrombospondin-2
Somalogic ID (Sequence ID) SL007206 (3339-33_1)
Entrez Gene Symbol THBS2
UniProt ID P35442
UniProt Comment
  • Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties.
Wiki Pathways
  • Focal Adhesion
Pathway Interaction Database
  • Alpha4 beta1 integrin signaling events
  • Beta1 integrin cell surface interactions
Reactome
  • O-glycosylation of TSR domain-containing proteins
  • Signaling by PDGF
Pathway Studio
  • Extracellular Matrix Turnover

All locus annotations are based on the sentinel SNP (rs3763267) and 23 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
Potentially regulated genes
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg25692002 (chr6:169586458) 4.4×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Pubertal growth, across pubertal growth period 1.9×10-4 23449627 (PMID) Supplemental file