PT - JOURNAL ARTICLE AU - Hao Li AU - Feng Liu AU - Chao Ren AU - Xiaochen Bo AU - Wenjie Shu TI - Genome-wide identification and characterisation of HOT regions in the human genome AID - 10.1101/036152 DP - 2016 Jan 01 TA - bioRxiv PG - 036152 4099 - http://biorxiv.org/content/early/2016/08/04/036152.short 4100 - http://biorxiv.org/content/early/2016/08/04/036152.full AB - HOT (high-occupancy target) regions, which are bound by a surprisingly large number of transcription factors, are considered to be among the most intriguing findings of recent years. An improved understanding of the roles that HOT regions play in biology would be afforded by knowing the constellation of factors that constitute these domains and by identifying HOT regions across the spectrum of human cell types. We characterised and validated HOT regions in embryonic stem cells (ESCs) and produced a catalogue of HOT regions in a broad range of human cell types. We found that HOT regions are associated with genes that control and define the developmental processes of the respective cell and tissue types. We also showed evidence of the developmental persistence of HOT regions at primitive enhancers and demonstrate unique signatures of HOT regions that distinguish them from typical enhancers and super-enhancers. Finally, we performed an epigenetic analysis to reveal the dynamic epigenetic regulation of HOT regions upon H1 differentiation. Taken together, our results provide a resource for the functional exploration of HOT regions and extend our understanding of the key roles of HOT regions in development and differentiation.