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Chunk #7 — METHOD AND PIPELINE — Data collection and processing

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GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications.
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ChIP-Seq data of CTCF-binding sites, which imply transcription repression and chromatin insulation. For predicted elements, we downloaded the ChromHMM genome-wide maps of chromatin state annotations for supported cell types and extracted the promoter, enhancer and insulator elements whose signals are predicted as ‘Strong’. We also merged the genomic profiles of three ENCODE tier 1 cell lines (GM12878, K562, H1 human embryonic stem cells) to support the ‘no cell type restriction’ option.