Activin A receptor type 1C single nucleotide polymorphisms associated with esophageal squamous cell carcinoma risk in Chinese population

Table 2 Primary information of five selected genotyped single nucleotide polymorphisms of Activin A receptor type 1C: rs4664229 T>C, rs4556933 G>A, rs77886248 T>A, rs77263459 T>C, rs6734630 A>G

Genotyped SNPs	rs4664229	rs4556933	rs77886248	rs77263459	rs6734630
Alleles	T>C	G>A	T>A	T>C	A>G
Chromosome	2	2	2	2	2
Gene	ACVR1C
Function	3 Prime UTR variant	Synonymous variant	Intron variant	Intron variant	3 Prime UTR Variant
Chromosome position	157530426	157587377	157565301	157621261	157528286
Regulome DB score1	4	4	7	5	7
TFBS	-	-	-	-	-
MAF in database (1000 Genomes)
Global	C = 0.1414	A = 0.4403	A = 0.0078	C = 0.1042	G = 0.1865
East Asian	C = 0.0903	A = 0.3185	A = 0.0387	C = 0.2361	G = 0.0913
MAF in control	C = 0.1050	A = 0.3027	A = 0.0325	C = 0.2482	G = 0.1050
P value for HWE test in the controls	0.2551	0.6442	0.4526	0.5386	0.2630
Genotyping method	Ligation detection reaction
Genotyping value, %	98.9	98.5	98.9	98.9	98.9

¹http://www.regulomedb.org/.

TFBS: Transcription factor binding site (http://snpinfo.niehs.nih.gov/snpinfo/snpfuc.htm); HWE: Hardy-weinberg equilibrium; SNPs: Single nucleotide polymorphisms; ACVR1C: Activin A receptor type 1C; MAF: Minor allele frequency.