HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 370

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
KI2L4 cis Discovery rs7259090 19:55,392,646 G/A 0.17 997 0.413 0.057 1.3×10-12 1.110 2.4×10-7 0.652

 

Regional association plots

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

 

Boxplots and histograms for top associations

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

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

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

Target (abbrv.) KI2L4
Target (full name) Killer cell immunoglobulin-like receptor 2DL4
Somalogic ID (Sequence ID) SL012698 (5095-21_3)
Entrez Gene Symbol KIR2DL4
UniProt ID Q99706
UniProt Comment
  • Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.
Reactome
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Pathway Studio
  • Natural Killer Cell Activation through Integrins and non-ITAM-Containing Receptors

All locus annotations are based on the sentinel SNP (rs7259090).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • FCAR Fc fragment of IgA, receptor for

 

Results from other genome-wide association studies

Trait P Study Source
cg14550066 (chr19:55417524) 8×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg17804112 (chr19:55417520) 4.8×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs