HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 415

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-1 R4 cis Discovery rs4851016 2:103,120,400 T/C 0.28 997 0.291 0.043 1.8×10-11 1.120 2.4×10-11 6×10-10
IL-1 R4 cis Replication rs6543146 2:103,096,695 C/A 0.36 337 0.332 0.072 5.1×10-6 1.160 4.7×10-6 3.1×10-7


Regional association plots

Interleukin-1 receptor-like 1 (IL-1 R4)


Boxplots and histograms for top associations

Interleukin-1 receptor-like 1 (IL-1 R4)

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

Interleukin-1 receptor-like 1 (IL-1 R4)

Target (abbrv.) IL-1 R4
Target (full name) Interleukin-1 receptor-like 1
Somalogic ID (Sequence ID) SL004146 (4234-8_2)
Entrez Gene Symbol IL1RL1
UniProt ID Q01638
UniProt Comment
  • Receptor for interleukin-33 (IL-33); signaling requires association of the coreceptor IL1RAP. Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function.

All locus annotations are based on the sentinel SNP (rs4851016) and 55 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
  • SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4
Potentially regulated genes
  • SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4
  • TMEM182 transmembrane protein 182
eQTL genes


Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL18RAP in blood 2.8×10-81 21829388 (PMID) GRASP2 eQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in cerebellum in Alzheimer's disease cases and controls 1.2×10-7 22685416 (PMID) GRASP2 eQTL
Inflammatory bowel disease 4.7×10-6 Supplemental file
cg00652772 (chr2:102867396) 7.5×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Crohn's disease 1.3×10-5 Supplemental file
Celiac disease 1.8×10-5 20190752 (PMID) GRASP2 nonQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in temporal cortex in Alzheimer's disease cases and controls 2.8×10-5 22685416 (PMID) GRASP2 eQTL
Serum ratio of (isobutyrylcarnitine)/(lathosterol) 9.5×10-5 21886157 (PMID) GRASP2 metabQTL
Asthma 9.7×10-5 20860503 (PMID) GRASP2 nonQTL
Serum ratio of (allantoin)/(thymol sulfate) 9.9×10-5 21886157 (PMID) GRASP2 metabQTL
Ulcerative collitis 2.8×10-4 Supplemental file
Serum concentration of bradykinin, des-arg(9) 3.7×10-4 21886157 (PMID) GRASP2 metabQTL