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

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Locus annotations

Locus 183

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-7 Ra cis Discovery rs11957503 5:35,883,176 T/G 0.44 996 0.425 0.044 1.9×10-21 1.070 2.9×10-5 0.435
IL-7 Ra cis Replication rs6451229 5:35,866,218 A/G 0.35 337 0.396 0.065 3.4×10-9 1.060 0.003 0.451

 

Regional association plots

Interleukin-7 receptor subunit alpha (IL-7 Ra)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Interleukin-7 receptor subunit alpha (IL-7 Ra)

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

Interleukin-7 receptor subunit alpha (IL-7 Ra)

Target (abbrv.) IL-7 Ra
Target (full name) Interleukin-7 receptor subunit alpha
Somalogic ID (Sequence ID) SL005189 (5089-11_3)
Entrez Gene Symbol IL7R
UniProt ID P16871
UniProt Comment
  • Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
Targeted by drugs (based on IPA annotation)
  • recombinant human interleukin-7
Wiki Pathways
  • IL-7 signaling pathway
Reactome
  • Interleukin-7 signaling
Pathway Studio
  • IL7R → FOXO/NF-kB signaling
  • IL7R → STAT signaling
  • Model of T-cell Maturation
  • T-cell-Dependent B-cell Activation
  • V(D)J Recombination Activation

All locus annotations are based on the sentinel SNP (rs11957503) and 7 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

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of [probe 3890523 centered at chr5:35915079] in blood 6.8×10-11 21829388 (PMID) GRASP2 eQTL
Differential exon level expression of IL7R [probe 2806472] in peripheral blood mononuclear cells 5.1×10-6 19222302 (PMID) GRASP2 eQTL
Breast cancer 2.3×10-5 20872241 (PMID) GRASP2 nonQTL
Breast neoplasms 6.6×10-5 pha002853 (dbGaP) dbGaP via SNiPA