Table 3.

TFBS affected by variants (predicted by the JASPAR database)

	Wilda	Variantb	Disrupt	Create
g.4085G>C	NKX2-5, NKX3-2, ZNF354C, FOXC1, NKX3-1, GATA3, GATA2, GATA1, NR2E3, NFAT5, EN2, NKX2-8, RHOXF1, HIC2, ISL2, BARHL1, MSANTD3, HOXB6, DLX1, DlX4, GATA6, DLX6, DlX3, BARX1, FOXP3, DlX2, NKX2-2, NKX2-4, SOX18, ZNF784, ZIM3	NKX2-5, NKX3-2, ZNF354C, FOXC1, NKX3-1, GATA3, GATA2, GFI1, GATA1, PAX6, NR2E3, NFAT5, NFIC, EN2, NKX2-8, RHOXF1, HIC2, NFIX, ISL2, BARHL1, MSANTD3, HOXB6, DLX1, DlX4, GATA6, DLX6, DlX3, BARX1, FOXP3, DlX2, NKX2-2, NKX2-4, SOX18, ZNF784, ZIM3	–	NFIX, PAX6, Gfi1, NFIC
g.4716G>A	E2F1, KLF4, SP1, SPI1, KLF5, MEIS1, E2F6, EGR1, GATA4, KLF1, E2F4, SP2, MGA, MEIS3, TBX4, TBX5, TBX1, TBX15, SP8, SP3, KLF14, NR2C2, NR4A1, ZNF75D, SOX18, WT1, TBX6, TBX18, ZNF281, PRDM9, SP9, TBX3	E2F1, KLF4, SP1, SPI1, KLF5, MEIS1, E2F6, EGR1, GATA4, KLF1, E2F4, MGA, MEIS3, TBX5, SP8, SP3, KLF14, NR2C2, NR4A1, ZNF75D, WT1, ZNF281, PRDM9, SP9, TBX3, TEAD1, TEAD3	SP2, SOX18, TBX1, TBX4, TBX6, TBX15, TBX18	TEAD1, TEAD3

TFBS, transcription factor binding sites

^aWild-type possessed TFBS

^bVariant-type possessed TFBS