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WCMC

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

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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)

Download the association data used to generate this plot

 

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


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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


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No associations available.