Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Table 6 Transcription factor binding site interval enrichment results

Phenotype	Transcription factor	# Observed overlap	# Expected overlap	−log10 (E-value)
AHI	FOXP2	588	36.20	473.99
	KDM6B	630	51.58	435.29
	THAP1	505	31.89	402.07
	KLF9	745	91.81	395.52
	TP63	997	182.22	383.85
Average desaturation	FOXP2	493	22.32	460.00
	THAP1	439	19.55	412.76
	UBTF	489	28.20	407.50
	TP63	788	109.36	382.89
	KDM6B	482	30.98	380.39
Average SpO₂	FOXP2	582	35.87	468.89
	KDM6B	613	51.21	418.65
	EGR1	664	66.76	404.83
	UBTF	574	46.35	399.91
	KDM4B	489	29.56	398.10
Min SpO₂	FOXP2	561	35.57	445.57
	THAP1	515	31.32	417.89
	KDM6B	569	50.87	373.41
	UBTF	536	45.99	360.56
	EGR1	602	66.25	346.03
Per90	FOXP2	689	39.05	578.42
	KDM6B	739	54.79	539.69
	TP63	1199	193.28	515.44
	THAP1	607	34.47	509.33
	EGR1	786	72.09	507.27

Two-hundred-fifty-base pair sliding window coordinates with association p < 0.01 were queried for interval enrichment of ChIP-seq-derived transcription factor binding sites using the ReMap annotation tool. ChIP-seq coordinates were required to have >50% overlap with a sliding window interval. ReMap-derived expected overlaps are obtained from the equivalent number of similarly sized random regions. E-value indicates the expected value, with a higher log-transformed value indicating greater enrichment. Full results are provided in Additional file 1: Table S14

ISSN: 1756-994X