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WCMC

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

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Locus annotations

Locus 104

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Angiogenin cis Discovery rs17114671 14:21,155,270 T/C 0.12 997 0.806 0.060 1.9×10-38 1.200 4.4×10-35 1.2×10-29
Angiogenin cis Replication rs10142601 14:21,143,334 A/G 0.14 337 0.626 0.091 3.6×10-11 1.190 1.7×10-11 1.7×10-11

 

Regional association plots

 

Boxplots and histograms for top associations

Angiogenin

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

Angiogenin

Target (abbrv.) Angiogenin
Target (full name) Angiogenin
Somalogic ID (Sequence ID) SL000003 (4874-3_1)
Entrez Gene Symbol ANG
UniProt ID P03950
UniProt Comment
  • Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo.
Biomarker applications (based on IPA annotation)
  • response to therapy

All locus annotations are based on the sentinel SNP (rs17114671) and 9 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
  • ANG
  • RNASE4 ribonuclease, RNase A family, 4
  • ANG angiogenin, ribonuclease, RNase A family, 5
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ANG///RNASE4 in blood 2.2×10-27 21829388 (PMID) GRASP2 eQTL
Gene expression of RNASE4 in peripheral blood monocytes 6.3×10-22 20502693 (PMID) GRASP2 eQTL
Gene expression of ANG in peripheral blood monocytes 1×10-18 20502693 (PMID) GRASP2 eQTL
Gene expression of RNASE4 in blood 2.4×10-15 21829388 (PMID) GRASP2 eQTL
cg22862526 (chr14:21156790) 2.5×10-15 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of RNASE4///ANG in blood 3.6×10-12 21829388 (PMID) GRASP2 eQTL
Gene expression of ANG in liver 1.9×10-6 18462017 (PMID) GRASP2 eQTL
Autism 2.1×10-5 20663923 (PMID) GRASP2 nonQTL