Locus 41

GWAS results
Target annotations
Locus annotations
Network

Top associations per target

Target	cis/trans	Study	SNP	SNP location	Maj/min allele	MAF	N	β_inv	se_inv	P_inv	fc_log	P_log	P_raw
ILT-2	cis	Discovery	rs2004318	19:55,138,232	C/T	0.05	996	-1.789	0.086	1.8×10^-80	-2.080	6.1×10^-139	1.5×10^-102
ILT-2	cis	Replication	rs10427127	19:55,143,982	A/G	0.07	337	-1.531	0.111	1.4×10^-34	-1.980	6.3×10^-47	2.9×10^-24

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 (rs2004318) and 73 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	AC009892.5 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 AC245036.1 AC009892.10 AC245036.4 AC245036.3 AC245036.6 AC245036.5 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 AC245036.2 MIR8061 microRNA 8061 VN1R105P vomeronasal 1 receptor 105 pseudogene AC009892.9
Potentially regulated genes	AC009892.5 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 KIR3DL2 LILRA5 KIR3DL2 LILRB1 KIR2DP1 KIR3DL1 KIR2DL3 LILRA6 KIR3DL1 KIR2DL4 AC008984.7 KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NLRP2 KIR3DL2 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 KIR3DL2 AC009892.10 KIR3DL2 LILRA6 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 KIR2DL1 KIR2DP1 KIR3DL2 KIR3DL2 KIR3DL3 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 LILRB2 KIR3DL3 KIR3DL2 KIR3DL3 AC011515.2 KIR3DL2 KIR3DL3 LILRA6 AC010518.3 KIR3DL3 KIR2DP1 AC008984.5 KIR2DL4 KIR2DS4 KIR3DL2 KIR2DL4 LILRA1 KIR2DS4 KIR2DL4 KIR3DL2 KIR2DL3 KIR3DL2 FCAR LILRB1 LILRA2 KIR2DL4 KIR2DL3 NLRP2 KIR3DL3 KIR3DL2 KIR3DL1 KIR2DS4 LILRA6 KIR3DL3 KIR2DL4 KIR2DL4 KIR2DL4 KIR3DL1 KIR3DL3 KIR2DL1 FCAR KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NLRP2 KIR2DS4 LILRA1 LILRA5 FCAR KIR3DL1 LILRA3 KIR2DL3 KIR2DP1 KIR3DL2 LAIR1 KIR2DL3 KIR3DL2 LILRB2 KIR2DS4 KIR3DL2 KIR2DL4 NLRP2 FCAR KIR2DL4 KIR3DL1 KIR3DL3 LILRA5 KIR2DS4 KIR3DL3 KIR2DL1 AC009892.10 KIR3DL3 KIR3DL2 KIR2DP1 KIR3DL1 KIR3DL2 LILRA6 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 KIR3DL3 FCAR KIR2DL1 KIR2DS4 LILRA3 KIR2DP1 KIR3DL3 KIR3DL3 KIR2DS4 NLRP2 LENG8 KIR3DL2 KIR2DL1 KIR2DL4 KIR2DL1 KIR2DL1 KIR2DL3 KIR3DL3 KIR2DP1 KIR2DS4 KIR2DL4 KIR2DL3 KIR2DL1 KIR2DS4 KIR2DS4 KIR2DP1 LAIR1 KIR3DL2 AC008984.7 KIR3DL3 KIR2DS4 KIR3DL3 FCAR KIR2DL3 KIR3DL1 FCAR KIR3DL3 KIR2DP1 KIR3DL2 KIR3DL3 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 LILRB4 KIR2DS4 KIR2DL3 KIR2DL4 LILRA2 FCAR AC012314.19 KIR2DL4 KIR2DL4 KIR2DL1 KIR2DL1 KIR3DL1 LILRB1 LILRA5 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 KIR3DL3 KIR2DL3 KIR2DL4 LILRA2 NLRP2 LILRA3 KIR2DL4 KIR2DP1 KIR2DL3 KIR3DL1 KIR2DL3 KIR2DL3 KIR3DL3 KIR2DS4 LILRB4 KIR2DL3 KIR3DL1 KIR2DL4 KIR3DL1 KIR3DL2 KIR2DL1 KIR3DL1 NLRP2 KIR2DS4 KIR2DL4 KIR2DL1 KIR2DP1 KIR2DS4 KIR2DL4 KIR2DL1 KIR2DL4 KIR3DL3 KIR2DS4 KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 KIR2DP1 LENG8 leukocyte receptor cluster (LRC) member 8 KIR2DS4 LAIR1 KIR2DL3 LILRA5 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 KIR2DL4 KIR2DL3 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 KIR2DL1 KIR3DL2 LILRB4 KIR3DL1 KIR2DL4 KIR2DL1 VN1R105P vomeronasal 1 receptor 105 pseudogene KIR2DL1 LILRA3 KIR2DS4 AC012314.19 LILRA1 KIR2DL3 KIR2DL4 KIR2DP1 AC008984.5 KIR2DP1 KIR3DL2 KIR2DL4 KIR2DL1 AC010518.3 KIR2DS4 KIR2DL4 KIR3DL3 KIR2DP1 KIR2DL1 KIR2DL3 LENG8 LAIR1 KIR3DL1 FCAR LILRB2 NLRP2 LILRB1 KIR2DL1 KIR3DL1 KIR3DL2 KIR3DL2 KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 AC011515.2 LILRB4 LENG8 KIR3DL3 KIR2DL1 KIR3DL2 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 KIR2DP1 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 KIR3DL3 KIR3DL3 KIR2DL1 NLRP2 KIR3DL2 KIR2DL1 KIR3DL1 KIR2DP1 KIR3DL1 KIR3DL2 KIR2DL4 KIR2DL4 KIR2DL1 KIR3DL1 KIR3DL3 KIR3DL1 FCAR Fc fragment of IgA, receptor for KIR3DL3 NLRP2 NLR family, pyrin domain containing 2 LILRB2 KIR2DL3 KIR2DS4 KIR3DL3 KIR2DS4 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 KIR2DP1 KIR3DL2 KIR3DL3 KIR3DL1 KIR3DL3 KIR2DL4 KIR2DL1 AC009892.2 KIR3DX1 AC008984.6 KIR3DX1 killer cell immunoglobulin-like receptor, three domains, X1 KIR3DX1 KIR3DX1 AC008984.6 AC009892.2
eQTL genes	LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 CTB-83J4.2 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 LILRB5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2

Results from other genome-wide association studies

Trait	P	Study	Source
Gene expression of LILRA2 in peripheral blood monocytes	1.7×10^-8	20502693 (PMID)	GRASP2 eQTL
Gene expression of ACTRT1 in peripheral blood monocytes	6.6×10^-6	20502693 (PMID)	GRASP2 eQTL
3-(4-hydroxyphenyl)lactate	3.5×10^-5	24816252 (PMID)	gwas.eu via SNiPA

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

ONLINE SUPPLEMENTARY INFORMATION

Locus 41

Top associations per target

Regional association plots

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

Boxplots and histograms for top associations

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

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

Linked genes

Results from other genome-wide association studies