Locus 372

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	rs2239805	6:32,411,376	T/G	0.17	997	-0.408	0.057	1.4×10^-12	-1.080	3.5×10^-11	4.2×10^-12
C4	cis	Replication	rs1980493	6:32,363,215	A/G	0.05	337	0.056	0.174	0.746	-1.020	0.681	0.796

Regional association plots

Complement C4 (C4)

Download the association data used to generate this plot

Boxplots and histograms for top associations

Complement C4 (C4)

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

Complement C4 (C4)

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 (rs2239805) and 78 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	HLA-DRA major histocompatibility complex, class II, DR alpha HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene)
Potentially regulated genes	HLA-DQB2 HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 HLA-DQB2 HLA-DQB2 FKBPL HLA-DQB2 HLA-DQB2 FKBPL FKBPL FK506 binding protein like HLA-DQB2 HLA-DQB2 FKBPL PRRT1 PRRT1 BTNL2 PRRT1 PRRT1 proline-rich transmembrane protein 1 BTNL2 PRRT1 PRRT1 BTNL2 BTNL2 BTNL2 PRRT1 BTNL2 BTNL2 PRRT1 BTNL2 butyrophilin-like 2 CYP21A2 HLA-DOB C4B PSMB9 HLA-DOB C4B PSMB9 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 C4B HLA-DOB PSMB9 CYP21A2 CYP21A2 HLA-DOB C4B complement component 4B (Chido blood group) PSMB9 PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 HLA-DOB PSMB9 CYP21A2 C4B C4B PSMB9 PSMB9 HLA-DOB major histocompatibility complex, class II, DO beta CYP21A2 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQB1 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-DQB1 HLA-DQB1 TAP1 HLA-DQA1 PBX2 TAP1 HLA-DQA1 HLA-DQB1 PBX2 HLA-DQA1 HLA-DQA1 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) TAP1 HLA-DQB1 HLA-DRB5 major histocompatibility complex, class II, DR beta 5 HLA-DQB1 TAP1 PBX2 PBX2 TAP1 PBX2 TAP1 PBX2 HLA-DQA1 TAP1 PBX2 pre-B-cell leukemia homeobox 2 HLA-DRA major histocompatibility complex, class II, DR alpha
eQTL genes	C4A complement component 4A (Rodgers blood group) HLA-DRB5 major histocompatibility complex, class II, DR beta 5 RNF5 ring finger protein 5, E3 ubiquitin protein ligase HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) NOTCH4 notch 4 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DMA major histocompatibility complex, class II, DM alpha C4B complement component 4B (Chido blood group) PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene MICB MHC class I polypeptide-related sequence B C6orf25 chromosome 6 open reading frame 25 LY6G6C lymphocyte antigen 6 complex, locus G6C XXbac-BPG300A18.13 TNXA tenascin XA (pseudogene) HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 XXbac-BPG246D15.9 HLA-DOB major histocompatibility complex, class II, DO beta LIMS1 LIM and senescent cell antigen-like domains 1 HLA-DRA major histocompatibility complex, class II, DR alpha HLA-DMB major histocompatibility complex, class II, DM beta LST1 leukocyte specific transcript 1 HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) HCP5 HLA complex P5 (non-protein coding) APOM apolipoprotein M

Results from other genome-wide association studies

Show entries

Filter this table:

Trait	P	Study	Source
cg25645491 (chr6:32411091)	3.3×10^-310	10.1101/033084 (DOI)	BIOS QTL cis-meQTLs
Gene expression of HLA-DRB5 (probeID ILMN_1701686) in whole blood	5.4×10^-80	22692066 (PMID)	GRASP2 eQTL
Myasthenia gravis	3.9×10^-73	23055271 (PMID)	GRASP2 nonQTL
Rheumatoid arthritis	3.5×10^-68	20453842 (PMID)	GRASP2 nonQTL
Type 1 diabetes, combined control dataset	8×10^-60	17554300 (PMID)	GRASP2 nonQTL
Gene expression of HLA-DRB5///HLA-DRB1 in blood	2.4×10^-58	21829388 (PMID)	GRASP2 eQTL
Gene expression of HLA-DRB1 in peripheral blood monocytes	2.1×10^-52	20502693 (PMID)	GRASP2 eQTL
Gene expression of HLA-DRB4 in peripheral blood monocytes	9.2×10^-42	20502693 (PMID)	GRASP2 eQTL
Gene expression of HLA-DRB6 in peripheral blood monocytes	1.3×10^-30	20502693 (PMID)	GRASP2 eQTL
Rheumatoid arthritis (ACPA-positive)	2.7×10^-29	21156761 (PMID)	GRASP2 nonQTL

Showing 1 to 10 of 108 entries

Previous1 2 3 4 5…11Next

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

ONLINE SUPPLEMENTARY INFORMATION

Locus 372

Top associations per target

Regional association plots

Complement C4 (C4)

Boxplots and histograms for top associations

Complement C4 (C4)

Complement C4 (C4)

Linked genes

Results from other genome-wide association studies