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WCMC

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

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Locus annotations

Locus 191

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ATS13 cis Discovery rs3118663 9:136,281,753 G/A 0.49 991 0.395 0.041 1.4×10-20 1.090 1.5×10-20 2.8×10-19
ATS13 cis Replication rs3124782 9:136,270,996 A/G 0.41 337 -0.263 0.062 2.6×10-5 -1.070 5×10-5 1.6×10-4

 

Regional association plots

A disintegrin and metalloproteinase with thrombospondin motifs 13 (ATS13)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

A disintegrin and metalloproteinase with thrombospondin motifs 13 (ATS13)

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

A disintegrin and metalloproteinase with thrombospondin motifs 13 (ATS13)

Target (abbrv.) ATS13
Target (full name) A disintegrin and metalloproteinase with thrombospondin motifs 13
Somalogic ID (Sequence ID) SL006610 (3175-51_5)
Entrez Gene Symbol ADAMTS13
UniProt ID Q76LX8
UniProt Comment
  • Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.
Reactome
  • O-glycosylation of TSR domain-containing proteins

All locus annotations are based on the sentinel SNP (rs3118663) and 25 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
  • SURF1 surfeit 1
  • SURF1
  • SURF2
  • SURF2 surfeit 2
  • AK8 adenylate kinase 8
  • SARDH sarcosine dehydrogenase
  • EEF1A1P5 eukaryotic translation elongation factor 1 alpha 1 pseudogene 5
  • GTF3C5 general transcription factor IIIC, polypeptide 5, 63kDa
  • REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae)
  • REXO4
eQTL genes
  • SURF6 surfeit 6
  • RP11-244N20.7
  • MED22 mediator complex subunit 22
  • CACFD1 calcium channel flower domain containing 1
  • REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae)
  • ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
  • SURF1 surfeit 1
  • SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6
  • SURF2 surfeit 2

 

Results from other genome-wide association studies

Trait P Study Source
cg21241477 (chr9:136223989) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SURF6 in peripheral blood monocytes 9.7×10-189 20502693 (PMID) GRASP2 eQTL
Gene expression of SURF6 in blood 2.6×10-86 21829388 (PMID) GRASP2 eQTL
Gene expression of MED22 in peripheral blood monocytes 1.8×10-68 20502693 (PMID) GRASP2 eQTL
Gene expression of MED22 in blood 4.6×10-41 21829388 (PMID) GRASP2 eQTL
cg01790274 (chr9:136241044) 1.8×10-38 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg25307641 (chr9:136222139) 1.1×10-28 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SURF1 in peripheral blood monocytes 1.3×10-22 20502693 (PMID) GRASP2 eQTL
Gene expression of SURF1 in CEU-CHB-JPT lymphoblastoid cell lines 3.9×10-19 17873874 (PMID) GRASP2 eQTL
cg14206140 (chr9:136303457) 6×10-19 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SURF1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines 1.2×10-18 17873874 (PMID) GRASP2 eQTL
Gene expression of SURF1 (probeID ILMN_1663407) in temporal cortex in Alzheimer's disease cases and controls 2.7×10-16 22685416 (PMID) GRASP2 eQTL
Gene expression of SURF1 probe [GI_19557683-S] in brain cortex with no Alzheimer's interaction 6.5×10-15 19361613 (PMID) GRASP2 eQTL
Gene expression of SURF1 in Frontal cortex 8.7×10-15 20485568 (PMID) GRASP2 eQTL
Gene expression of SURF1 in blood 1.7×10-14 21829388 (PMID) GRASP2 eQTL
Gene expression of SURF1 in Caudal pons 4.5×10-13 20485568 (PMID) GRASP2 eQTL
Gene expression of SURF6 in YRI lymphoblastoid cell lines 6.6×10-13 17873874 (PMID) GRASP2 eQTL
Gene expression of SURF1 in Temporal cortex 2.3×10-12 20485568 (PMID) GRASP2 eQTL
"Gene expression of REXO4 [transcript NM_020385, probe A_23_P157861] in liver" 3.1×10-12 21637794 (PMID) GRASP2 eQTL
Gene expression of SURF1 [probe 204295_at] in lymphoblastoid cell lines 3.4×10-12 17873877 (PMID) GRASP2 eQTL
Gene expression of SURF6 [probe ILMN_29359] in osteoblasts 1.1×10-11 19654370 (PMID) GRASP2 eQTL
Gene expression of SURF6 in Frontal cortex 4.1×10-10 20485568 (PMID) GRASP2 eQTL
Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in Alzheimer's disease cases and controls 2.1×10-9 22685416 (PMID) GRASP2 eQTL
Gene expression of SURF1 in Cerebellum 1.1×10-8 20485568 (PMID) GRASP2 eQTL
Gene expression of SURF6 (probeID ILMN_1778032) in breast tumors 1.2×10-8 22522925 (PMID) GRASP2 eQTL
Gene expression of [probe 4860689 centered at chr9:135198369] in blood 3.5×10-7 21829388 (PMID) GRASP2 eQTL
PC aa C36:4 / PC ae C44:3 5.5×10-7 20037589 (PMID) GRASP2 metabQTL
Gene expression of SURF1 (ENSG00000148290) in dendritic cells 6.2×10-7 22233810 (PMID) GRASP2 eQTL
Triglycerides 2.2×10-5 24097068 (PMID) Supplemental file
Gene expression of SURF5 in blood cells in Celiac disease 4.1×10-5 19128478 (PMID) GRASP2 eQTL
Gene expression of SURF1 in normal prepouch ileum 4.7×10-5 23474282 (PMID) GRASP2 eQTL
LDL cholesterol 7.7×10-5 24097068 (PMID) Supplemental file
PC ae C44:3 1.2×10-4 20037589 (PMID) GRASP2 metabQTL
Childhood obesity 1.2×10-4 22484627 (PMID) Supplemental file
Obesity with early age of onset (age >2) 1.2×10-4 22484627 (PMID) GRASP2 nonQTL
cg24770292 (chr9:136223805) 1.3×10-4 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Stroke 2.5×10-4 pha002886 (dbGaP) dbGaP via SNiPA
Height 3.6×10-4 25282103 (PMID) Supplemental file
Gene expression of LCN1L1 in blood 3.7×10-4 21829388 (PMID) GRASP2 eQTL