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Functional characterization of DeepWAS hits.

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posted on 03.02.2020, 18:33 by Janine Arloth, Gökcen Eraslan, Till F. M. Andlauer, Jade Martins, Stella Iurato, Brigitte Kühnel, Melanie Waldenberger, Josef Frank, Ralf Gold, Bernhard Hemmer, Felix Luessi, Sandra Nischwitz, Friedemann Paul, Heinz Wiendl, Christian Gieger, Stefanie Heilmann-Heimbach, Tim Kacprowski, Matthias Laudes, Thomas Meitinger, Annette Peters, Rajesh Rawal, Konstantin Strauch, Susanne Lucae, Bertram Müller-Myhsok, Marcella Rietschel, Fabian J. Theis, Elisabeth B. Binder, Nikola S. Mueller

(A): Annotation of the genomic regions in which dSNPs are located: 63–87% of the genomic positions of dSNPs overlapped with non-coding DNA elements. Seventeen of 53 MS-specific (32%), 14 of 43 height-specific (33%) and 8 of 61 MDD-specific (13%) dSNPs mapped to introns (first and other introns). Over a half of the MDD-specific dSNPs (53%) resided in distal intergenic regions (>3 kb). None of the MS- and MDD- specific dSNPs were located in exons. (B): Bar plots for each phenotype showing the number of unique dSNPs annotated to a top-level tissue category (ENCODE). (C): Overlap of MS-, MDD-, and height-specific dSNPs with ChromHMM states from Roadmap epigenomes based on top-level tissue group matching. Most of our MS- and height-specific dSNPs mapped to predicted active chromatin states (82–86%), whereas nearly half of MDD-specific dSNPs mapped to inactive chromatin states (43%). (D) Tissue enrichment with FANTOM gene expression data. The top 15 significantly enriched tissues are shown (all p-values≤0.05).