HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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)

 

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