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 311

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
I-TAC cis Discovery rs4356932 4:76,955,194 C/T 0.45 993 0.329 0.043 4.3×10-14 1.170 1.4×10-11 0.012
I-TAC cis Replication rs10003382 4:76,955,473 A/G 0.40 337 0.207 0.067 0.002 1.130 0.004 0.01

 

Regional association plots

 

Boxplots and histograms for top associations

C-X-C motif chemokine 11 (I-TAC)

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

C-X-C motif chemokine 11 (I-TAC)

Target (abbrv.) I-TAC
Target (full name) C-X-C motif chemokine 11
Somalogic ID (Sequence ID) SL003326 (3038-9_2)
Entrez Gene Symbol CXCL11
UniProt ID O14625
UniProt Comment
  • Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses.
Wiki Pathways
  • Regulation of toll-like receptor signaling pathway
  • Toll-like receptor signaling pathway
Pathway Interaction Database
  • CXCR3-mediated signaling events
Reactome
  • Chemokine receptors bind chemokines
  • G alpha (i) signalling events
Pathway Studio
  • CCR2/5 → STAT signaling
  • CCR5 → TP53 signaling
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

All locus annotations are based on the sentinel SNP (rs4356932) and 264 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
Potentially regulated genes
  • NAAA N-acylethanolamine acid amidase
  • SDAD1 SDA1 domain containing 1
  • G3BP2 GTPase activating protein (SH3 domain) binding protein 2
  • CXCL9 chemokine (C-X-C motif) ligand 9
  • PPEF2 protein phosphatase, EF-hand calcium binding domain 2
  • ART3 ADP-ribosyltransferase 3
  • USO1 USO1 vesicle transport factor
  • NUP54 nucleoporin 54kDa
  • CXCL11 chemokine (C-X-C motif) ligand 11
  • RP11-630D6.5
  • SCARB2 scavenger receptor class B, member 2
  • CCDC158 coiled-coil domain containing 158
eQTL genes
  • ART3 ADP-ribosyltransferase 3
  • NAAA N-acylethanolamine acid amidase
  • NUP54 nucleoporin 54kDa
  • CXCL10 chemokine (C-X-C motif) ligand 10
  • CXCL11 chemokine (C-X-C motif) ligand 11
  • SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20

 

Results from other genome-wide association studies

Trait P Study Source
cg11525552 (chr4:76932165) 5.2×10-101 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg04038163 (chr4:76925179) 1.7×10-90 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of NAAA in blood 8.3×10-84 21829388 (PMID) GRASP2 eQTL
Gene expression of ASAHL in peripheral blood monocytes 6.7×10-43 20502693 (PMID) GRASP2 eQTL
cg05110901 (chr4:76931542) 1.9×10-29 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of NAAA [probe 214765_s_at] in lymphoblastoid cell lines 1.4×10-23 17873877 (PMID) GRASP2 eQTL
Gene expression of ASAHL in lymphoblastoid cell lines 1.1×10-21 17873877 (PMID) GRASP2 eQTL
Gene expression of NAAA [probe 227135_at] in lymphoblastoid cell lines 7.3×10-21 17873877 (PMID) GRASP2 eQTL
Gene expression of CXCL10 in peripheral blood monocytes 7.3×10-16 20502693 (PMID) GRASP2 eQTL
cg24979437 (chr4:76932155) 2.4×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of ASAHL in CEU-CHB-JPT-YRI lymphoblastoid cell lines 1.8×10-12 17873874 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_1668605) in cerebellum in Alzheimer's disease cases and controls 2.8×10-11 22685416 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2391512) in cerebellum in Alzheimer's disease cases and controls 9.4×10-11 22685416 (PMID) GRASP2 eQTL
Gene expression of CXCL9 in peripheral blood monocytes 1.1×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of CXCL10 [probe 204533_at] in lymphoblastoid cell lines 2.6×10-9 17873877 (PMID) GRASP2 eQTL
Gene expression of ASAHL in blood cells in Celiac disease 5.6×10-9 19128478 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2285568) in cerebellum in Alzheimer's disease cases and controls 1.1×10-8 22685416 (PMID) GRASP2 eQTL
Gene expression of CXCL10 in lymphoblastoid cell lines 2×10-8 17873877 (PMID) GRASP2 eQTL
Gene expression of ASAHL in YRI lymphoblastoid cell lines 3.9×10-8 17873874 (PMID) GRASP2 eQTL
Serum ratio of (1-heptadecanoylglycerophosphocholine)/(biliverdin) 7.6×10-7 21886157 (PMID) GRASP2 metabQTL
Gene expression of NAAA (probeID ILMN_1668605) in cerebellum in Alzheimer's disease cases 1.2×10-6 22685416 (PMID) GRASP2 eQTL
cg09020375 (chr4:76995518) 1.2×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of NAAA (probeID ILMN_1668605) in cerebellum in non-Alzheimer's disease samples 3×10-5 22685416 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2285568) in temporal cortex in Alzheimer's disease cases and controls 4.1×10-5 22685416 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2391512) in temporal cortex in Alzheimer's disease cases and controls 9.8×10-5 22685416 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_1668605) in temporal cortex in Alzheimer's disease cases 1.1×10-4 22685416 (PMID) GRASP2 eQTL
Gene expression of CXCL10 in blood 1.4×10-4 21829388 (PMID) GRASP2 eQTL
Autism 1.4×10-4 20663923 (PMID) GRASP2 nonQTL
Gene expression of CXCL10 (ENSG00000169245) in dendritic cells treated with Mycobacterium tuberculosis 1.6×10-4 22233810 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_1668605) in temporal cortex in Alzheimer's disease cases and controls 1.8×10-4 22685416 (PMID) GRASP2 eQTL
Gene expression of ASAHL [probe 2773872] in peripheral blood mononuclear cells 3×10-4 19222302 (PMID) GRASP2 eQTL
Alzheimer's disease 3.4×10-4 24162737 (PMID) Supplemental file