HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Home
Ideogram
Loci
Network view
Proteome annotation
Help
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) 9.6×10-10 10.1101/033084 (DOI) BIOS QTL cis-meQTLs