Locus 235

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
C4	cis	Discovery	rs8283	6:32,083,300	A/G	0.19	994	0.487	0.056	2.3×10^-17	1.090	7.7×10^-15	1×10^-16
C4	cis	Replication	rs8283	6:32,083,300	A/G	0.39	337	0.571	0.070	7.5×10^-15	1.150	6.9×10^-12	1.9×10^-14

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

Target (abbrv.)	C4
Target (full name)	Complement C4
Somalogic ID (Sequence ID)	SL000316 (4481-34_2)
Entrez Gene Symbol	C4A, C4B
UniProt ID	P0C0L4, P0C0L5
UniProt Comment	P0C0L4: Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens. P0C0L5: Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.
Wiki Pathways	Complement Activation, Classical Pathway SIDS Susceptibility Pathways
Reactome	Activation of C3 and C5 Initial triggering of complement Regulation of Complement cascade

All locus annotations are based on the sentinel SNP (rs8283).
Download the detailed results of SNiPA's block annotation (PDF)

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Genes hit or close-by	ATF6B activating transcription factor 6 beta TNXB tenascin XB
eQTL genes	TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ATF6B activating transcription factor 6 beta XXbac-BPG246D15.9 HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) STK19B serine/threonine kinase 19B, pseudogene FKBPL FK506 binding protein like MICB MHC class I polypeptide-related sequence B TNXA tenascin XA (pseudogene)

Trait	P	Study	Source
Rheumatoid arthritis	3.8×10^-51	20453842 (PMID)	GRASP2 nonQTL
HIV-1 control	2.2×10^-9	21051598 (PMID)	GRASP2 nonQTL
Crohn's disease	1×10^-6		Supplemental file