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WCMC

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

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Locus annotations

Locus 94

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
WFKN2 cis Discovery rs3803884 17:48,919,039 T/C 0.31 997 0.563 0.040 1.4×10-40 1.150 3×10-39 7.2×10-40
WFKN2 cis Replication rs4533326 17:48,909,608 A/C 0.43 337 0.435 0.054 1.2×10-14 1.160 6.8×10-15 7.2×10-14

 

Regional association plots

WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 (WFKN2)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 (WFKN2)

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

WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 (WFKN2)

Target (abbrv.) WFKN2
Target (full name) WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2
Somalogic ID (Sequence ID) SL010391 (3235-50_2)
Entrez Gene Symbol WFIKKN2
UniProt ID Q8TEU8
UniProt Comment
  • Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity).

All locus annotations are based on the sentinel SNP (rs3803884) and 38 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
  • WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2
  • RP11-506D12.5
  • RPL5P33 ribosomal protein L5 pseudogene 33
  • TOB1 transducer of ERBB2, 1
  • TOB1-AS1 TOB1 antisense RNA 1
Potentially regulated genes
  • WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2
  • RP11-294J22.5
  • SPATA20 spermatogenesis associated 20
  • CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
  • NME2 NME/NM23 nucleoside diphosphate kinase 2
  • RP11-700H6.1
  • MYCBPAP MYCBP associated protein
  • ANKRD40 ankyrin repeat domain 40
  • ACSF2 acyl-CoA synthetase family member 2
  • XYLT2 xylosyltransferase II
  • RSAD1 radical S-adenosyl methionine domain containing 1
  • TOB1 transducer of ERBB2, 1
  • ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3
  • LUC7L3 LUC7-like 3 (S. cerevisiae)
  • RP11-94C24.8
eQTL genes
  • TOB1 transducer of ERBB2, 1

 

Results from other genome-wide association studies

Trait P Study Source
cg14350358 (chr17:48913293) 9.6×10-50 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg22842797 (chr17:48912597) 2.3×10-49 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg13655803 (chr17:48912788) 4.3×10-45 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg07168556 (chr17:48912459) 1.1×10-22 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of TOB1 [probe 228834_at] in lymphoblastoid cell lines 9×10-19 17873877 (PMID) GRASP2 eQTL
cg22469388 (chr17:48912836) 4.2×10-18 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg06827038 (chr17:48912976) 6.3×10-15 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Differential splicing of NDFIP1 [probeset 2833082] in lymphoblastoid cell lines 3×10-9 19052777 (PMID) GRASP2 eQTL
Gene expression of TOB1 in blood 2.5×10-6 21829388 (PMID) GRASP2 eQTL
Gene expression of TOB1 [probe ILMN_13735] in untreated osteoblasts 4.3×10-6 21283786 (PMID) GRASP2 eQTL
Gene expression of FIS in peripheral blood monocytes 4.4×10-6 20502693 (PMID) GRASP2 eQTL
cg20493283 (chr17:48912140) 5.1×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of VIM in peripheral blood monocytes 9.5×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of TOB1 (ENSG00000141232) in dendritic cells 4.9×10-5 22233810 (PMID) GRASP2 eQTL
Major depressive disorder (broad definition) (females) 1.3×10-4 20038947 (PMID) GRASP2 nonQTL
Major depressive disorder (narrow definition) (females) 4.3×10-4 20038947 (PMID) GRASP2 nonQTL