In ENSEMBL, the larger overlapping chr4:190,019,400–190,023,600 region is also classified as a promoter with several transcription factor binding sites including a.o. PITX1, that is specifically increased in FSHD muscles [5] (regulatory feature: ENSR00000746270). The gene discussed is PITX1; the disease is facioscapulohumeral muscular dystrophy.