HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 21

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PCSK7 cis Discovery rs9326248 11:116,999,225 G/T 0.24 995 -0.993 0.040 1.7×10-105 -1.270 3.1×10-80 9.7×10-27
PCSK7 cis Replication rs8521 11:117,067,699 A/G 0.49 337 -0.831 0.050 2.1×10-45 -1.310 1.2×10-32 2×10-16

 

Regional association plots

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

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

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

Target (abbrv.) PCSK7
Target (full name) Proprotein convertase subtilisin/kexin type 7
Somalogic ID (Sequence ID) SL014069 (4459-68_2)
Entrez Gene Symbol PCSK7
UniProt ID Q16549
UniProt Comment
  • Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RXXX[KR]R consensus motif.
Biomarker applications (based on IPA annotation)
  • unspecified application

All locus annotations are based on the sentinel SNP (rs9326248) and 37 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
Potentially regulated genes
eQTL genes
  • PCSK7 proprotein convertase subtilisin/kexin type 7
  • TAGLN transgelin
  • RP11-109L13.1
  • CBLN2 cerebellin 2 precursor
  • SIDT2 SID1 transmembrane family, member 2
  • PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)

 

Results from other genome-wide association studies

Trait P Study Source
cg03276022 (chr11:117069924) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg10130564 (chr11:117069873) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg11861562 (chr11:117069756) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg15534755 (chr11:117069883) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg26566898 (chr11:117069915) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of TAGLN in peripheral blood monocytes 6×10-200 20502693 (PMID) GRASP2 eQTL
Gene expression of TAGLN///PCSK7 in blood 4.6×10-184 21829388 (PMID) GRASP2 eQTL
Gene expression of SIDT2 in peripheral blood monocytes 1.4×10-122 20502693 (PMID) GRASP2 eQTL
Gene expression of SIDT2 in blood 4.9×10-85 21829388 (PMID) GRASP2 eQTL
Gene expression of TAGLN (probeID ILMN_1778668) in whole blood 2.3×10-72 22692066 (PMID) GRASP2 eQTL
Gene expression of SIDT2 (probeID ILMN_1791912) in whole blood 4.3×10-31 22692066 (PMID) GRASP2 eQTL
Soluble transferrin receptor 7.3×10-24 21149283 (PMID) GRASP2 nonQTL
Gene expression of PAFAH1B2 [probe ILMN_1778668] in peripheral leukocytes 3.9×10-21 19966804 (PMID) GRASP2 eQTL
cg24619694 (chr11:117070461) 3×10-16 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Differential splicing of PCSK7 [probeset 3393213] in lymphoblastoid cell lines 5×10-15 19052777 (PMID) GRASP2 eQTL
Gene expression of TAGLN (probeID ILMN_1706783) in temporal cortex in Alzheimer's disease cases and controls 6.3×10-15 22685416 (PMID) GRASP2 eQTL
Gene expression of TAGLN in blood 1.1×10-14 21829388 (PMID) GRASP2 eQTL
Total cholesterol 1.7×10-10 24097068 (PMID) Supplemental file
Triglycerides 2.1×10-10 20686565 (PMID) GRASP2 nonQTL
Gene expression of TAGLN (probeID ILMN_1706783) in temporal cortex in non-Alzheimer's disease samples 7×10-10 22685416 (PMID) GRASP2 eQTL
Gene expression of TAGLN in Fibroblasts 2.7×10-9 19644074 (PMID) GRASP2 eQTL
Gene expression of PCSK7 in peripheral blood monocytes 3.8×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of TAGLN in blood cells in Celiac disease 6.5×10-8 19128478 (PMID) GRASP2 eQTL
Differential exon level expression of SIDT2 [probe 3350819] in peripheral blood mononuclear cells 4.7×10-7 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of SIDT2 [probe 3350803] in peripheral blood mononuclear cells 4.8×10-7 19222302 (PMID) GRASP2 eQTL
Gene expression of SIDT2 in normal prepouch ileum 1.1×10-6 23474282 (PMID) GRASP2 eQTL
Differential exon level expression of SIDT2 [probe 3350816] in peripheral blood mononuclear cells 1.2×10-6 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of SIDT2 [probe 3350810] in peripheral blood mononuclear cells 2×10-6 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of PCSK7 [probe 3393204] in peripheral blood mononuclear cells 3.2×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of TAGLN (probeID ILMN_1706783) in temporal cortex in Alzheimer's disease cases 3.4×10-6 22685416 (PMID) GRASP2 eQTL
Differential exon level expression of SIDT2 [probe 3350814] in peripheral blood mononuclear cells 5.9×10-6 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of SIDT2 [probe 3350806] in peripheral blood mononuclear cells 7.1×10-6 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of SIDT2 [probe 3350818] in peripheral blood mononuclear cells 8.9×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression change of TAGLN (ENSG00000149591) in dendritic cells after treatment with Mycobacterium tuberculosis 1.9×10-5 22233810 (PMID) GRASP2 eQTL
Gene expression of SIDT2 [probe 3350775] in peripheral blood mononuclear cells 2.3×10-5 19222302 (PMID) GRASP2 eQTL
Gene expression of TAGLN in CD4+ lymphocytes 2.6×10-5 20833654 (PMID) GRASP2 eQTL
1,6-anhydroglucose 9.2×10-5 24816252 (PMID) gwas.eu via SNiPA
Gene expression of TAGLN [probe 3350830] in peripheral blood mononuclear cells 3.5×10-4 19222302 (PMID) GRASP2 eQTL
LDL cholesterol 3.6×10-4 19060906 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration 4×10-4 23455636 (PMID) GRASP2 nonQTL