HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 302

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ARTS1 cis Discovery rs27303 5:96,374,150 A/G 0.18 997 -0.439 0.056 1.5×10-14 -1.190 2.9×10-13 1.4×10-14
ARTS1 cis Replication rs27303 5:96,374,150 A/G 0.20 337 -0.148 0.087 0.089 -1.060 0.183 0.078


Regional association plots

Endoplasmic reticulum aminopeptidase 1 (ARTS1)


Boxplots and histograms for top associations

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

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

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

Target (abbrv.) ARTS1
Target (full name) Endoplasmic reticulum aminopeptidase 1
Somalogic ID (Sequence ID) SL007729 (4964-67_1)
Entrez Gene Symbol ERAP1
UniProt ID Q9NZ08
UniProt Comment
  • Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney.
  • Antigen Presentation: Folding, assembly and peptide loading of class I MHC

All locus annotations are based on the sentinel SNP (rs27303).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • LNPEP leucyl/cystinyl aminopeptidase
eQTL genes
  • ERAP2 endoplasmic reticulum aminopeptidase 2


Results from other genome-wide association studies

Trait P Study Source
Crohn's disease 9.4×10-5 Supplemental file