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

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Locus annotations

Locus 35

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
SPINT2 cis Discovery rs8112211 19:38,824,581 C/T 0.25 997 -0.947 0.043 1×10-88 -1.210 8.9×10-84 2.9×10-67
SPINT2 cis Replication rs11881305 19:38,804,218 A/G 0.36 337 -0.609 0.048 1.6×10-30 -1.190 3.3×10-28 1.8×10-20

 

Regional association plots

Kunitz-type protease inhibitor 2 (SPINT2)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Kunitz-type protease inhibitor 2 (SPINT2)

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

Kunitz-type protease inhibitor 2 (SPINT2)

Target (abbrv.) SPINT2
Target (full name) Kunitz-type protease inhibitor 2
Somalogic ID (Sequence ID) SL001897 (2843-13_2)
Entrez Gene Symbol SPINT2
UniProt ID O43291
UniProt Comment
  • Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa.
Biomarker applications (based on IPA annotation)
  • diagnosis

All locus annotations are based on the sentinel SNP (rs8112211) and 27 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
  • YIF1B Yip1 interacting factor homolog B (S. cerevisiae)
  • CTB-102L5.4
  • C19orf33 chromosome 19 open reading frame 33
  • KCNK6 potassium channel, two pore domain subfamily K, member 6
  • CATSPERG catsper channel auxiliary subunit gamma
  • AC005625.1
Potentially regulated genes
  • PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8
eQTL genes
  • YIF1B Yip1 interacting factor homolog B (S. cerevisiae)
  • CATSPERG catsper channel auxiliary subunit gamma
  • PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A
  • C19orf33 chromosome 19 open reading frame 33
  • SPINT2 serine peptidase inhibitor, Kunitz type, 2

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of C19orf33 in blood 6.8×10-87 21829388 (PMID) GRASP2 eQTL
cg01594262 (chr19:38806121) 1.5×10-83 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of PPP1R14A in peripheral blood monocytes 7.2×10-38 20502693 (PMID) GRASP2 eQTL
Gene expression of C19orf33 (probeID ILMN_1717793) in temporal cortex in Alzheimer's disease cases and controls 2.7×10-12 22685416 (PMID) GRASP2 eQTL
Gene expression of YIF1B in peripheral blood monocytes 1.2×10-10 20502693 (PMID) GRASP2 eQTL
Gene expression of C19orf33 in normal prepouch ileum 6.9×10-10 23474282 (PMID) GRASP2 eQTL
Gene expression of C19orf33 (probeID ILMN_1717793) in cerebellum in Alzheimer's disease cases and controls 1.2×10-9 22685416 (PMID) GRASP2 eQTL
Gene expression of RASGRP4 in peripheral blood monocytes 2.1×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of C19orf33 (ENSG00000167644) in dendritic cells 4×10-8 22233810 (PMID) GRASP2 eQTL
Gene expression of C19orf33///YIF1B in blood 2.4×10-7 21829388 (PMID) GRASP2 eQTL
Gene expression of PPP1R14A in blood 1.5×10-6 21829388 (PMID) GRASP2 eQTL
Differential exon level expression of C19orf33 [probe 3832286] in peripheral blood mononuclear cells 3.2×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of IMUP_HUMAN in blood cells in Celiac disease 7.9×10-6 19128478 (PMID) GRASP2 eQTL
Sickle cell anemia severity 1.8×10-5 20029952 (PMID) GRASP2 nonQTL