HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 56

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
annexin II cis Discovery rs36032232 15:60,776,991 A/G 0.15 996 0.970 0.052 6.9×10-66 1.270 3.9×10-61 3.2×10-40
annexin II cis Replication rs55651326 15:60,705,968 G/A 0.15 337 0.605 0.091 1.1×10-10 1.270 2.1×10-10 3.8×10-12

 

Regional association plots

 

Boxplots and histograms for top associations

Annexin A2 (annexin II)

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

Annexin A2 (annexin II)

Target (abbrv.) annexin II
Target (full name) Annexin A2
Somalogic ID (Sequence ID) SL004209 (4961-17_1)
Entrez Gene Symbol ANXA2
UniProt ID P07355
UniProt Comment
  • Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9 (PubMed:18799458, PubMed:24808179, PubMed:22848640).
Biomarker applications (based on IPA annotation)
  • diagnosis
  • unspecified application
Wiki Pathways
  • Epithelium TarBase
  • Leukocyte TarBase
  • Lymphocyte TarBase
  • Prostaglandin Synthesis and Regulation
  • Squamous cell TarBase
Reactome
  • Dissolution of Fibrin Clot
  • Muscle contraction
Pathway Studio
  • ADRA2C/ADRB2 → synaptic endocytosis
  • GFs/TNF → ion channels

All locus annotations are based on the sentinel SNP (rs36032232) and 28 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
eQTL genes
  • ICE2 interactor of little elongation complex ELL subunit 2

 

Results from other genome-wide association studies

Trait P Study Source
cg02072495 (chr15:60689309) 1.6×10-56 10.1101/033084 (DOI) BIOS QTL cis-meQTLs