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

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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
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INF×10-324		 20502693 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in blood 9.8×10-198 21829388 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in breast tumors 4.6×10-148 22522925 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in whole blood 4×10-128 22692066 (PMID) GRASP2 eQTL
TIMM10 gene expression 1.1×10-85 21798870 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in temporal cortex in Alzheimer's disease cases and controls 3.2×10-74 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 probe [GI_6912707-S] in brain cortex with no Alzheimer's interaction 1.6×10-72 19361613 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in cerebellum in Alzheimer's disease cases and controls 3.5×10-69 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in temporal cortex in non-Alzheimer's disease samples 1.2×10-41 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in cerebellum in non-Alzheimer's disease samples 4.4×10-39 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in temporal cortex in Alzheimer's disease cases 4.2×10-30 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in cerebellum in Alzheimer's disease cases 9×10-29 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in liver 3.1×10-27 22006096 (PMID) GRASP2 eQTL
Gene expression of TIMM10 [probe ILMN_22808] in osteoblasts treated with dexamethasone 4.1×10-27 21283786 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in Temporal cortex 3.5×10-26 20485568 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in Frontal cortex 4.6×10-25 20485568 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in Caudal pons 8×10-25 20485568 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in CEU-CHB-JPT lymphoblastoid cell lines 9.4×10-24 17873874 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in Cerebellum 1.9×10-22 20485568 (PMID) GRASP2 eQTL
Gene expression of TIMM10 [probe ILMN_22808] in osteoblasts 5.6×10-22 19654370 (PMID) GRASP2 eQTL
Gene expression of TIMM10 [probe ILMN_22808] in untreated osteoblasts 7.2×10-22 21283786 (PMID) GRASP2 eQTL
Gene expression of TIMM10 [probe 1555764_s_at] in lymphoblastoid cell lines 1.5×10-21 17873877 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in cerebellum in Progressive Supranuclear Palsy cases 3.1×10-20 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 [probe 218408_at] in lymphoblastoid cell lines 2.3×10-17 17873877 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (probeID ILMN_1765332) in temporal cortex in Progressive Supranuclear Palsy cases 4.5×10-17 22685416 (PMID) GRASP2 eQTL
"Gene expression of TIMM10 [transcript NM_012456, probe A_23_P64343] in liver" 2×10-16 21637794 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in blood cells in Celiac disease 2.2×10-16 19128478 (PMID) GRASP2 eQTL
Gene expression of YPEL4 in peripheral blood monocytes 8×10-15 20502693 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (ENSG00000134809) in dendritic cells 2.1×10-14 22233810 (PMID) GRASP2 eQTL
Gene expression of TIMM10 (ENSG00000134809) in dendritic cells treated with Mycobacterium tuberculosis 6.2×10-13 22233810 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in JPT lymphoblastoid cell lines 5.1×10-10 17873874 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in normal prepouch ileum 1.7×10-9 23474282 (PMID) GRASP2 eQTL
Gene expression of SLC43A1 (probeID ILMN_1780924) in cerebellum in Alzheimer's disease cases and controls 3.1×10-9 22685416 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in Lymphoblastoid cell lines 3.6×10-8 19644074 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in T cells 1.8×10-7 19644074 (PMID) GRASP2 eQTL
Gene expression of TIMM10 in Fibroblasts 9.4×10-7 19644074 (PMID) GRASP2 eQTL
Gene expression of PSME1 in peripheral blood monocytes 1.8×10-6 20502693 (PMID) GRASP2 eQTL
cg25284762 (chr11:57267655) 1.9×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg14898332 (chr11:57249408) 3.2×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SLC43A1 (probeID ILMN_1780924) in cerebellum in non-Alzheimer's disease samples 4.6×10-6 22685416 (PMID) GRASP2 eQTL
Gene expression of HLA-B in peripheral blood monocytes 6.5×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of SLC43A1 in liver 1.5×10-4 18462017 (PMID) GRASP2 eQTL
Gene expression of TIMM10 [probe 3373946] in peripheral blood mononuclear cells 2.3×10-4 19222302 (PMID) GRASP2 eQTL
Gene expression of XM_166913 in liver 3.1×10-4 18462017 (PMID) GRASP2 eQTL