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 322

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 rs2729354 11:57,355,970 G/A 0.20 993 0.410 0.054 8×10-14 1.100 9.1×10-14 1.1×10-13
C1-Esterase Inhibitor cis Replication rs2848630 11:57,356,907 G/A 0.19 337 0.271 0.091 0.003 1.030 0.438 0.234

 

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 (rs2729354) and 16 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
  • SLC43A1 solute carrier family 43 (amino acid system L transporter), member 1
  • UBE2L6 ubiquitin-conjugating enzyme E2L 6
  • SMTNL1 smoothelin-like 1
  • RPS4XP13 ribosomal protein S4X pseudogene 13
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
eQTL genes
  • BTBD18 BTB (POZ) domain containing 18
  • TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast)
  • YPEL4 yippee-like 4 (Drosophila)
  • SMTNL1 smoothelin-like 1
  • SLC43A1 solute carrier family 43 (amino acid system L transporter), member 1
  • RN7SL605P RNA, 7SL, cytoplasmic 605, pseudogene
  • ZDHHC5 zinc finger, DHHC-type containing 5
  • SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • RP11-624G17.3

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of TIMM10 in peripheral blood monocytes