In this study, we postulated that mutations responsible for the clinical manifestation of FSHD or playing a disease-modifier role might reside within remotely acting regulatory elements that have the potential to interact with the DNA fragment containing the SMCHD1 gene and that these elements might be located within regions enriched in epigenetic features characteristic of regulatory regions. This evidence concerns the gene SMCHD1 and facioscapulohumeral muscular dystrophy.