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WCMC

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

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Locus annotations

Locus 125

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ILT-2 cis Discovery rs45461791 19:55,112,396 C/T 0.07 994 0.973 0.080 5.5×10-32 1.280 7.3×10-19 2.4×10-31
ILT-2 cis Replication rs11879469 19:55,123,737 A/G 0.07 337 0.346 0.128 0.007 1.100 0.051 0.006

 

Regional association plots

Leukocyte immunoglobulin-like receptor subfamily B member 1 (ILT-2)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Leukocyte immunoglobulin-like receptor subfamily B member 1 (ILT-2)

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

Leukocyte immunoglobulin-like receptor subfamily B member 1 (ILT-2)

Target (abbrv.) ILT-2
Target (full name) Leukocyte immunoglobulin-like receptor subfamily B member 1
Somalogic ID (Sequence ID) SL005190 (5090-49_2)
Entrez Gene Symbol LILRB1
UniProt ID Q8NHL6
UniProt Comment
  • Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of the signal triggered by FCER1A and inhibits serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions.
Reactome
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Pathway Studio
  • Natural Killer Cell Inhibitory Receptor Signaling

All locus annotations are based on the sentinel SNP (rs45461791) and 50 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
  • LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1
  • AC009892.5
  • LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
  • AC245036.1
  • AC009892.10
Potentially regulated genes
eQTL genes
  • LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1

 

Results from other genome-wide association studies

Trait P Study Source
cg05365532 (chr19:55128374) 9.5×10-10 10.1101/033084 (DOI) BIOS QTL cis-meQTLs