HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 164

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Coagulation Factor XI cis Discovery rs2289252 4:187,207,381 C/T 0.41 991 0.442 0.042 4.6×10-25 1.070 1.6×10-23 1×10-20
Coagulation Factor XI cis Replication rs2289252 4:187,207,381 G/A 0.27 337 0.430 0.078 6.7×10-8 1.090 2.2×10-5 0.02

 

Regional association plots

 

Boxplots and histograms for top associations

Coagulation Factor XI

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

Coagulation Factor XI

Target (abbrv.) Coagulation Factor XI
Target (full name) Coagulation Factor XI
Somalogic ID (Sequence ID) SL002662 (2190-55_1)
Entrez Gene Symbol F11
UniProt ID P03951
UniProt Comment
  • Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
Wiki Pathways
  • Blood Clotting Cascade
Reactome
  • Intrinsic Pathway of Fibrin Clot Formation
Pathway Studio
  • Coagulation Cascade

All locus annotations are based on the sentinel SNP (rs2289252) and 4 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
  • F11 coagulation factor XI
  • F11-AS1 F11 antisense RNA 1
eQTL genes
  • IRF2 interferon regulatory factor 2

 

Results from other genome-wide association studies

Trait P Study Source
Activated partial thromboplastin time 6×10-43 22703881 (PMID) GWAS Catalog via SNiPA
Venous thrombosis 2.1×10-10 22675575 (PMID) GRASP2 nonQTL
Venous thromboembolism 2.9×10-6 22672568 (PMID) GRASP2 nonQTL
Gene expression of FOXJ1 in peripheral blood monocytes 3.8×10-6 20502693 (PMID) GRASP2 eQTL
bradykinin, des-arg(9) 9.3×10-5 24816252 (PMID) gwas.eu via SNiPA