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WCMC

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

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Locus annotations

Locus 55

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-12 Rb1 cis Discovery rs376008 19:18,189,568 C/T 0.34 994 -0.757 0.040 6.3×10-69 -1.100 7×10-15 0.059
IL-12 Rb1 cis Replication rs429774 19:18,186,752 A/G 0.27 337 -0.344 0.063 9.7×10-8 -1.070 8.6×10-5 0.025

 

Regional association plots

Interleukin-12 receptor subunit beta-1 (IL-12 Rb1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Interleukin-12 receptor subunit beta-1 (IL-12 Rb1)

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

Interleukin-12 receptor subunit beta-1 (IL-12 Rb1)

Target (abbrv.) IL-12 Rb1
Target (full name) Interleukin-12 receptor subunit beta-1
Somalogic ID (Sequence ID) SL004148 (2632-5_2)
Entrez Gene Symbol IL12RB1
UniProt ID P42701
UniProt Comment
  • Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade.
Pathway Interaction Database
  • IL12-mediated signaling events
  • IL23-mediated signaling events
  • IL27-mediated signaling events
Pathway Studio
  • CD8+ T-cell Activation
  • IL12R → NF-kB/NFATC signaling
  • IL12R → STAT signaling
  • Th1 Cell Differentiation
  • Th17 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs376008) and 20 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
  • IL12RB1 interleukin 12 receptor, beta 1
eQTL genes
  • IL12RB1 interleukin 12 receptor, beta 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL12RB1 in blood 1.2×10-24 21829388 (PMID) GRASP2 eQTL
Gene expression of IL12RB1 in peripheral blood monocytes 4.5×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of CHRM4 in peripheral blood monocytes 6.8×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of MAST3 [probe 213045_at] in prefrontal cortex 2.2×10-5 20351726 (PMID) GRASP2 eQTL
Gene expression of IL12RB1 in CD4+ lymphocytes 3.3×10-5 20833654 (PMID) GRASP2 eQTL