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WCMC

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

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Locus annotations

Locus 38

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
TAFI cis Discovery rs3742264 13:46,648,094 C/T 0.32 995 0.849 0.040 2.8×10-83 1.120 4.5×10-74 7.9×10-82
TAFI cis Replication rs9562635 13:46,642,992 A/G 0.26 337 0.648 0.074 1.5×10-16 1.090 3.9×10-13 1.1×10-15

 

Regional association plots

 

Boxplots and histograms for top associations

Carboxypeptidase B2 (TAFI)

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

Carboxypeptidase B2 (TAFI)

Target (abbrv.) TAFI
Target (full name) Carboxypeptidase B2
Somalogic ID (Sequence ID) SL004015 (3518-54_2)
Entrez Gene Symbol CPB2
UniProt ID Q96IY4
UniProt Comment
  • Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin.
Wiki Pathways
  • Complement and Coagulation Cascades
Reactome
  • Metabolism of Angiotensinogen to Angiotensins

All locus annotations are based on the sentinel SNP (rs3742264) and 62 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
  • ZC3H13 zinc finger CCCH-type containing 13
  • CPB2 carboxypeptidase B2 (plasma)
  • CPB2-AS1 CPB2 antisense RNA 1
Potentially regulated genes
  • LRRC63 leucine rich repeat containing 63
  • LCP1 lymphocyte cytosolic protein 1 (L-plastin)
eQTL genes
  • ZC3H13 zinc finger CCCH-type containing 13
  • CPB2-AS1 CPB2 antisense RNA 1
  • CPB2 carboxypeptidase B2 (plasma)

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ZC3H13 in liver 1.7×10-5 18462017 (PMID) GRASP2 eQTL
Platelet rich plasma (PRP) platelet ADP 5.5×10-5 21546496 (PMID) GRASP2 nonQTL
Q96IY4 protein abundance levels 1.2×10-4 22595970 (PMID) GRASP2 pQTL
"Gene expression of ZC3H13 [transcript NM_015070, probe A_24_P75376] in liver" 3.8×10-4 21637794 (PMID) GRASP2 eQTL