HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 273

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-6 sRa cis Discovery rs12121180 1:154,282,222 C/T 0.16 996 0.466 0.058 2.6×10-15 1.110 1.1×10-15 5.8×10-16
IL-6 sRa cis Replication rs12121180 1:154,282,222 G/A 0.05 337 0.070 0.150 0.641 1.020 0.642 0.767

 

Regional association plots

Interleukin-6 receptor subunit alpha (IL-6 sRa)

 

Boxplots and histograms for top associations

Interleukin-6 receptor subunit alpha (IL-6 sRa)

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

Interleukin-6 receptor subunit alpha (IL-6 sRa)

Target (abbrv.) IL-6 sRa
Target (full name) Interleukin-6 receptor subunit alpha
Somalogic ID (Sequence ID) SL001943 (4139-71_2)
Entrez Gene Symbol IL6R
UniProt ID P08887
UniProt Comment
  • Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal. Signal activation necessitate an association with IL6ST. Activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis.
Targeted by drugs (based on IPA annotation)
  • tocilizumab
Biomarker applications (based on IPA annotation)
  • efficacy
Wiki Pathways
  • IL-6 signaling pathway
  • SIDS Susceptibility Pathways
  • Senescence and Autophagy
Pathway Interaction Database
  • IL6-mediated signaling events
  • SHP2 signaling
Reactome
  • ERK1 activation
  • ERK2 activation
  • Interleukin-6 signaling
Pathway Studio
  • IL6R → CEBP/ELK-SRF signaling
  • IL6R → STAT signaling
  • Nociception-related IL6 expression targets
  • Th17 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs12121180) and 1 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
  • HAX1 HCLS1 associated protein X-1
  • UBAP2L ubiquitin associated protein 2-like
  • S100A4 S100 calcium binding protein A4
  • IL6R interleukin 6 receptor

 

Results from other genome-wide association studies

No associations available.