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. Author manuscript; available in PMC: 2012 Nov 1.
Published in final edited form as: Nat Genet. 2012 Mar 25;44(5):502–510. doi: 10.1038/ng.2205

Figure 4. rs11171739, a SNP at 12q13.2 with strong autoimmune association forms B-cell specific trans-eQTL to 3 separate genes.

Figure 4

(a) rs11171739 specifically associates with the B-cell trans expression of the genes LAP3P2 (pB-cell=2.0×10−52, pmonocyte=1.7×10−4), IP6K2 (pB-cell =5.8×10−15) and PRIC285 (pB-cell=3.0×10−10). (b) B-cell regional association plots of these genes demonstrating their expression by SNP marker across chromosome 12q13.2, a known autoimmune risk locus. (c) LAP3P2 lies ~1kb 5′ to CDKN1A and is denoted as a pseudogene. We observe a high degree of transcriptional activity in our RNA-seq data from CD19+ primary B-cells, and this is also seen in LCLs (GM12878)24. This region is highly conserved amongst vertebrates.