Leveraging mouse chromatin data for heritability enrichment informs common disease architecture and reveals cortical layer contributions to schizophrenia

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Figure 5.
Figure 5.

Fine-mapping prioritizes SNPs in the schizophrenia-associated locus surrounding the SOX2-OT gene. (A) A visualization of two prioritized SNPs (rs1805203 and rs1805645) in the promoter region of a SOX2-OT transcript promoter. The plot displays transcripts, the prioritized SNPs, a VISTA positive element (hs192), and the mouse-derived human peaks from all ATAC-seq samples. The prioritized SNPs are highlighted. (B) Representative VISTA mouse embryo LacZ staining data for the element hs192. Downloaded from VISTA database (https://enhancer.lbl.gov/). (C) Transcription factor binding motifs derived from HOCOMOCO v10 data that are disrupted by rs1805203. The nucleotides impacted are highlighted in red.

This Article

  1. Published in Advance April 17, 2020, doi: 10.1101/gr.256578.119 Genome Res. 30: 528-539

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