HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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)

 

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

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