TABLE 8.

Functional annotation obtained using RegulomeDB, HaploReg, and rVarBase.

SNP	Annotated gene	RegulomeDB	HaploReg v4.1					rVarBase
		Score	Promoter histone marks	Enhancer histone marks	DNase*	Proteins bound	Motifs changed	Chromatin state**	TF binding	Regulatory SNPs
rs10760673	TGFBR1	4	–	–	17	–	Hsf, TFIIA	104	–	60
rs7550232	TGFB2-AS1	2b	23 tissue	BLD, GI	44	9	EWSR1-FLI1, Irf, SP1	121	192	75

RegulomeDB score: 2b, TF blinding + any motif + DNase footprint + DNase peak; 4, TF blinding + DNase peak. * : number of tissues with reported DNase evidence of the targeted SNP. ** : number of reported evidence about the chromatin state of the surrounding region, e.g., strong/weak transcription, enhancers, and flanking active transcription start sites. –: No available data. TF, transcription factor; SNP, single nucleotide polymorphism.