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WCMC

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

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Locus annotations

Locus 29

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
C1-Esterase Inhibitor cis Discovery rs11603020 11:57,374,332 T/C 0.28 995 -0.936 0.040 5×10-96 -1.240 5.4×10-98 9.7×10-88
C1-Esterase Inhibitor cis Replication rs11607122 11:57,389,737 G/A 0.24 337 -0.544 0.077 1.2×10-11 -1.090 0.012 0.105

 

Regional association plots

Plasma protease C1 inhibitor (C1-Esterase Inhibitor)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Plasma protease C1 inhibitor (C1-Esterase Inhibitor)

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

Plasma protease C1 inhibitor (C1-Esterase Inhibitor)

Target (abbrv.) C1-Esterase Inhibitor
Target (full name) Plasma protease C1 inhibitor
Somalogic ID (Sequence ID) SL000308 (4479-14_2)
Entrez Gene Symbol SERPING1
UniProt ID P05155
UniProt Comment
  • Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.
Wiki Pathways
  • Complement and Coagulation Cascades
Reactome
  • Intrinsic Pathway of Fibrin Clot Formation
  • Platelet degranulation

All locus annotations are based on the sentinel SNP (rs11603020) and 31 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
  • SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Potentially regulated genes
  • RP11-872D17.8
  • PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)
  • CLP1 cleavage and polyadenylation factor I subunit 1
  • RTN4RL2 reticulon 4 receptor-like 2
  • YPEL4 yippee-like 4 (Drosophila)
  • SLC43A3 solute carrier family 43, member 3
  • ZDHHC5 zinc finger, DHHC-type containing 5
  • SLC43A1 solute carrier family 43 (amino acid system L transporter), member 1
  • SERPING1
  • SSRP1 structure specific recognition protein 1
  • SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
eQTL genes
  • TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast)
  • AP000662.4
  • MED19 mediator complex subunit 19
  • RN7SL605P RNA, 7SL, cytoplasmic 605, pseudogene
  • YPEL4 yippee-like 4 (Drosophila)
  • ZDHHC5 zinc finger, DHHC-type containing 5

 

Results from other genome-wide association studies

Trait P Study Source
cg10030791 (chr11:57364912) 1.9×10-90 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg15918732 (chr11:57364915) 3.2×10-86 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg16520038 (chr11:57408684) 7.4×10-86 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg23371208 (chr11:57408538) 4×10-66 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg10512089 (chr11:57408727) 1×10-62 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg11554335 (chr11:57336965) 6.1×10-55 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg02520020 (chr11:57364914) 8.6×10-49 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg12783776 (chr11:57365924) 1.2×10-44 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg15617545 (chr11:57364994) 1.7×10-31 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of TIMM10 in peripheral blood monocytes 1×10-23 20502693 (PMID) GRASP2 eQTL
cg21899310 (chr11:57365749) 1.6×10-20 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg06485787 (chr11:57365693) 6.3×10-17 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of YPEL4 in peripheral blood monocytes 2.3×10-16 20502693 (PMID) GRASP2 eQTL
Gene expression of SERPING1 in blood 9.8×10-16 21829388 (PMID) GRASP2 eQTL
cg00369658 (chr11:57365064) 4.7×10-14 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg00135888 (chr11:57407567) 1.8×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg01681881 (chr11:57407445) 9.7×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of ZDHHC5 in blood 1.4×10-11 21829388 (PMID) GRASP2 eQTL
Gene expression of MED19 in peripheral blood monocytes 2.3×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of MED19 in blood 6.3×10-9 21829388 (PMID) GRASP2 eQTL
Gene expression of ZDHHC5 in peripheral blood monocytes 3.2×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in blood 5.9×10-7 21829388 (PMID) GRASP2 eQTL
Schizophrenia 4.2×10-6 25056061 (PMID) Supplemental file
cg03773647 (chr11:57417925) 1.8×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs