ENAGenomicsNIGMShttps://www.ebi.ac.uk/ena/browser/view/PRJNA730049Homo sapiensMultiple independent sequence variants of the hTERT locus have been associated with telomere length and cancer risks in genome-wide association studies. Here, we identified an intronic variable number tandem repeat, VNTR2-1, as an enhancer-like element, which activated hTERT transcription in a cell and chromatin-dependent manner. VNTR2-1, consisting of 42-bp repeats with an array of E-boxes, cooperated with the proximal promoter in hTERT regulation by bHLH transcription factors and maintained hTERT expression during embryonic stem cell differentiation. Genomic deletion of VNTR2-1 in MelJuSo melanoma cells markedly reduced hTERT transcription, leading to telomere shortening, cellular senescence, and impairment of xenograft tumor growth. Interestingly, VNTR2-1 lengths varied widely in... (for more see dbGaP study page.)ENAfalseRepression of hTERT gene during cell differentiationRepression of hTERT gene during cell differentiation2025-09-242021-05-28PRJNA7300499606