Locus 302

Top associations per target

Target	cis/trans	Study	SNP	SNP location	Maj/min allele	MAF	N	β_inv	se_inv	P_inv	fc_log	P_log	P_raw
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

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

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.
Reactome	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)

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

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