HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 314

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
C7 cis Discovery rs7713972 5:40,552,474 T/C 0.18 996 -0.432 0.057 5.2×10-14 -1.100 2×10-13 4.3×10-13
C7 cis Replication rs1876140 5:40,505,752 C/A 0.36 337 -0.070 0.067 0.301 -1.020 0.386 0.276

 

Regional association plots

 

Boxplots and histograms for top associations

Complement component C7 (C7)

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

Complement component C7 (C7)

Target (abbrv.) C7
Target (full name) Complement component C7
Somalogic ID (Sequence ID) SL000323 (2888-49_2)
Entrez Gene Symbol C7
UniProt ID P10643
UniProt Comment
  • Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor.
Wiki Pathways
  • Complement Activation, Classical Pathway
  • Complement and Coagulation Cascades
Reactome
  • Regulation of Complement cascade
  • Terminal pathway of complement
Pathway Studio
  • Alternative Complement Pathway
  • Classical Complement Pathway
  • Lectin-Induced Complement Pathway

All locus annotations are based on the sentinel SNP (rs7713972) 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

eQTL genes
  • PTGER4 prostaglandin E receptor 4 (subtype EP4)

 

Results from other genome-wide association studies

Trait P Study Source
cg23192749 (chr5:40570320) 2×10-161 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Crohn's disease 1.6×10-14 Supplemental file
Inflammatory bowel disease 4×10-7 Supplemental file
Irritible bowel syndrome 5.2×10-7 18587394 (PMID) GRASP2 nonQTL
Crohn's disease, combined control dataset 8.1×10-6 17554300 (PMID) GRASP2 nonQTL
Gene expression of PTGER4 in blood 8.3×10-5 21829388 (PMID) GRASP2 eQTL