HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 408

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 rs3771167 2:102,986,188 A/G 0.10 996 0.436 0.063 1.1×10-11 1.190 1.5×10-11 2.2×10-9
IL-1 R4 cis Replication rs77763678 2:102,916,749 G/A 0.08 337 0.473 0.122 1.2×10-4 1.240 1.2×10-4 9.5×10-5


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 (rs3771167) and 32 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
Potentially regulated genes
  • IL1R1 interleukin 1 receptor, type I
  • IL1RL1 interleukin 1 receptor-like 1
  • IL18R1 interleukin 18 receptor 1
eQTL genes


Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL18RAP in blood 2.4×10-33 21829388 (PMID) GRASP2 eQTL
Serum protein levels (sST2) 2×10-30 23999434 (PMID) GWAS Catalog via SNiPA
cg19642470 (chr2:102868047) 1.2×10-15 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg23450938 (chr2:102972768) 1.5×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Met-PTC / PC ae C44:4 3.3×10-7 20037589 (PMID) GRASP2 metabQTL
Gene expression of IL18R1 in peripheral blood monocytes 5.2×10-7 20502693 (PMID) GRASP2 eQTL
"Gene expression of IL18R1 [transcript NM_003855, probe A_23_P39735] in liver" 3.3×10-6 21637794 (PMID) GRASP2 eQTL
Gene expression of IL18R1 in blood 9.1×10-6 21829388 (PMID) GRASP2 eQTL
cg05259891 (chr2:102866903) 5.8×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
1-oleoylglycerophosphoethanolamine 6.5×10-5 24816252 (PMID) gwas.eu via SNiPA
Met-PTC 1.6×10-4 20037589 (PMID) GRASP2 metabQTL