HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 209

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PPAC cis Discovery rs300756 2:233,416 G/A 0.17 995 -0.520 0.057 3×10-19 -1.460 9.1×10-21 7×10-19
PPAC cis Replication rs300705 2:240,785 G/A 0.34 337 -0.461 0.066 1.7×10-11 -1.510 2.8×10-11 1.3×10-8

 

Regional association plots

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

 

Boxplots and histograms for top associations

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

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

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

Target (abbrv.) PPAC
Target (full name) Low molecular weight phosphotyrosine protein phosphatase
Somalogic ID (Sequence ID) SL008063 (3858-5_1)
Entrez Gene Symbol ACP1
UniProt ID P24666
UniProt Comment
  • Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity.
Pathway Interaction Database
  • EPHA2 forward signaling

All locus annotations are based on the sentinel SNP (rs300756) and 1 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
  • SH3YL1 SH3 and SYLF domain containing 1
  • FAM150B family with sequence similarity 150, member B
  • ACP1 acid phosphatase 1, soluble
eQTL genes
  • SH3YL1 SH3 and SYLF domain containing 1

 

Results from other genome-wide association studies

Trait P Study Source
Cystatin C in serum 2.6×10-4 20383146 (PMID) GRASP2 nonQTL