Locus 48

GWAS results
Target annotations
Locus annotations
Network
Remarks

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-4	cis	Discovery	rs103294	19:54,797,848	C/T	0.19	995	-0.943	0.048	1.7×10^-73	-1.230	3.6×10^-80	2.8×10^-64
ILT-4	cis	Replication	rs798888	19:54,793,239	G/A	0.13	337	-0.832	0.089	1×10^-18	-1.300	1.7×10^-16	7.7×10^-10

Regional association plots

Leukocyte immunoglobulin-like receptor subfamily B member 2 (ILT-4)

Download the association data used to generate this plot

Boxplots and histograms for top associations

Leukocyte immunoglobulin-like receptor subfamily B member 2 (ILT-4)

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

Leukocyte immunoglobulin-like receptor subfamily B member 2 (ILT-4)

Target (abbrv.)	ILT-4
Target (full name)	Leukocyte immunoglobulin-like receptor subfamily B member 2
Somalogic ID (Sequence ID)	SL005191 (5091-28_3)
Entrez Gene Symbol	LILRB2
UniProt ID	Q8N423
UniProt Comment	Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance. Competes with CD8A for binding to class I MHC antigens. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions.
Reactome	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

All locus annotations are based on the sentinel SNP (rs103294) and 24 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	AC010518.3 AC010518.2 AC008984.5 AC008984.7
Potentially regulated genes	LILRB3 LILRB3 LILRB3 LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 LILRA5 KIR2DL3 OSCAR LILRA2 AC012314.19 OSCAR LILRB1 KIR2DP1 KIR2DL1 KIR2DL3 LILRA6 KIR2DL1 OSCAR AC008984.7 OSCAR LILRA5 LILRB1 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 KIR3DL3 KIR2DL3 AC009892.10 LILRA2 LILRA6 LILRA3 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 KIR2DL1 KIR2DP1 KIR2DP1 KIR2DL3 KIR3DL3 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 LILRB2 KIR2DL3 KIR2DL3 KIR3DL3 LILRB4 KIR3DL3 KIR2DL3 KIR3DL3 AC011515.2 KIR3DL3 LILRA6 AC010518.3 KIR3DL3 KIR2DP1 KIR2DL1 AC008984.5 KIR2DP1 KIR2DL1 OSCAR LILRA1 KIR2DL1 KIR2DL3 LILRB1 KIR3DL3 LILRA2 KIR2DP1 KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 KIR2DL3 LENG8 leukocyte receptor cluster (LRC) member 8 KIR3DL3 LAIR1 KIR2DL3 OSCAR LILRA5 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 KIR2DL3 LILRA6 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 KIR3DL3 OSCAR osteoclast associated, immunoglobulin-like receptor KIR2DL1 LILRB4 KIR3DL3 KIR2DL1 KIR2DL1 VN1R105P vomeronasal 1 receptor 105 pseudogene LILRA3 KIR2DL1 AC008753.6 AC012314.19 LILRA1 AC012314.2 KIR2DL3 LILRA1 KIR2DP1 LILRA5 LILRA3 KIR2DL3 AC008984.5 KIR2DP1 KIR2DP1 LAIR1 KIR2DL3 KIR2DL1 LILRB2 AC010518.3 NLRP12 NLR family, pyrin domain containing 12 KIR3DL3 MYADM myeloid-associated differentiation marker KIR2DP1 KIR3DL3 LILRA5 KIR2DL1 KIR2DL3 OSCAR LENG8 LAIR1 LILRB2 LILRB1 KIR2DL1 KIR3DL3 KIR2DL1 AC009892.10 KIR3DL3 AC011515.2 LILRB4 KIR2DP1 LILRA6 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 KIR3DL3 LENG8 KIR3DL3 KIR2DL1 KIR2DL1 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 LILRA3 KIR2DP1 OSCAR KIR2DP1 KIR3DL3 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 KIR3DL3 LENG8 KIR3DL3 KIR3DL3 KIR2DL1 AC009892.5 KIR2DL1 KIR2DL3 KIR2DL1 KIR2DL1 KIR3DL3 KIR2DL1 KIR2DP1 KIR2DP1 KIR2DL3 KIR2DL1 KIR2DL1 KIR3DL3 LAIR1 KIR2DP1 OSCAR KIR3DL3 LILRB2 AC008984.7 KIR2DL3 KIR3DL3 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 KIR3DL3 KIR3DL3 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 KIR2DP1 KIR2DL3 KIR3DL3 KIR3DL3 KIR2DP1 KIR3DL3 KIR3DL3 LILRB4 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 KIR2DL1
eQTL genes	TSEN34 TSEN34 tRNA splicing endonuclease subunit LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 AC010518.2 ITIH6 inter-alpha-trypsin inhibitor heavy chain family, member 6 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1

Results from other genome-wide association studies

Trait	P	Study	Source
Gene expression of LILRA3 in peripheral blood monocytes

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

ONLINE SUPPLEMENTARY INFORMATION

Locus 48

Top associations per target

Regional association plots

Leukocyte immunoglobulin-like receptor subfamily B member 2 (ILT-4)

Boxplots and histograms for top associations

Leukocyte immunoglobulin-like receptor subfamily B member 2 (ILT-4)

Leukocyte immunoglobulin-like receptor subfamily B member 2 (ILT-4)

Linked genes

Results from other genome-wide association studies