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Chunk #47 — Methods — Gene mapping

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Functional mapping and annotation of genetic associations with FUMA.
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Chromatin interaction mapping is performed by overlapping independent significant SNPs and SNPs in LD of them with one end of significantly interacting regions in user-selected tissue/cell types. These SNPs are then mapped to genes whose promoter regions (250 bp up- and 500 bp down-stream of transcription start site by default) overlap with another end of the significant interactions. Optionally SNPs can be filtered for those overlapping with predicted enhancer regions of the user-selected epigenomes. Similarly, mapped genes can also be filtered for having promoter regions overlap with predicted promoter regions of the user-selected epigenomes.