HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 239

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IGFBP-7 cis Discovery rs2412776 4:57,951,468 A/G 0.19 995 0.443 0.052 5.5×10-17 1.070 3.5×10-15 8×10-12
IGFBP-7 cis Replication rs4508954 4:57,951,527 A/G 0.11 337 0.267 0.089 0.003 1.050 0.016 0.171

 

Regional association plots

Insulin-like growth factor-binding protein 7 (IGFBP-7)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Insulin-like growth factor-binding protein 7 (IGFBP-7)

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

Insulin-like growth factor-binding protein 7 (IGFBP-7)

Target (abbrv.) IGFBP-7
Target (full name) Insulin-like growth factor-binding protein 7
Somalogic ID (Sequence ID) SL005087 (3320-49_2)
Entrez Gene Symbol IGFBP7
UniProt ID Q16270
UniProt Comment
  • Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion.
Wiki Pathways
  • Senescence and Autophagy
Reactome
  • Senescence-Associated Secretory Phenotype (SASP)

All locus annotations are based on the sentinel SNP (rs2412776) and 11 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


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Genes hit or close-by
  • UBE2CP3 ubiquitin-conjugating enzyme E2C pseudogene 3
  • IGFBP7 insulin-like growth factor binding protein 7
Potentially regulated genes
  • POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ITGB1BP1 in peripheral blood monocytes 3.6×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of CHCHD9 in peripheral blood monocytes 2.9×10-6 20502693 (PMID) GRASP2 eQTL
Obsessive-compulsive disorder (OCD) 2.8×10-4 22889921 (PMID) GRASP2 nonQTL