Table 1

Representative classes considered in this study.

class name

number of SNPs

size of region (kb)

SNP frequency (SNPs/kb)


coding

132,562

34,215

3.87


promoter

104,439

24,844

4.20


splice site

41,932

11,621

3.61


constrained elements

152,158

71,977

2.11


regulatory features core

260,919

64,296

4.06


regulatory features extended

558,932

136,134

4.11


cisRED

9,491

2,815

3.37


miRanda

3,975

884

4.50


non-coding RNA genes

1,832

490

3.74


ancestral repeats

44,243

13,011

3.40


genome

11,307,522

3,022,647

3.74


SNP counts shown are for all SNPs in Ensembl.

Levenstien and Klein BMC Bioinformatics 2011 12:26   doi:10.1186/1471-2105-12-26

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