a 2.

13

2.12
Ti/Tv ratio

2.11

2.10

2.09
East China Northeast China North China Central China South China Southwest China Northwest China
b 1.7

1.6
Het/Hom SNPs ratio

1.5

1.4

1.3

1.2

1.1
East China Northeast China North China Central China South China Southwest China Northwest China
c
20
Number of singleton
SNPs (×1000)

15

10

0
East China Northeast China North China Central China South China Southwest China Northwest China
d 15
Number of singleton
INDELs (×100)

10

0
East China Northeast China North China Central China South China Southwest China Northwest China

e 2.13 1.7 15
Het/Hom SNPs ratio

Number of singleton
Number of singleton

1.6 20
INDELs (×100)
SNPs (×1000)

2.12
Ti/Tv ratio

1.5 15 10
2.11 1.4
10
1.3 5
2.10 5
1.2
2.09 1.1 0 0
Ethnic group Ethnic group Ethnic group Ethnic group

15
f
Number of singleton

Province: Shanghai (1,910) Jiangxi (45) Beijing (61) Henan (163) Chongqing (21) Shaanxi (92)
Number of singleton

20
INDELs (×100)

Jiangsu (213) Shandong (481) Tianjin (72) Hubei (1,090) Sichuan (456) Gansu (559)
SNPs (×1000)

15 10 Zhejiang (1,413) Heilongjiang (31) Shanxi (75) Hunan (375) Guizhou (390)
Anhui (70) Jilin (40) Hebei (317) Guangdong (919) Yunnan (11)
10 Fujian (959) Liaoning (319) Neimenggu (273) Guangxi (96) Xizang (137)
5
5 Ethnic group: Han (9,043) Hui (222) Manchu (208) Miao (245)
Mongolian (228) Tibetan (207) Yi (212) Zhuang (223)
0 0 Relation: Unrelated (9,178) Related (1,410)
Relation Relation
Fig. S3 Analysis of autosomal SNPs and INDELs in the ChinaMAP. a The ratios

of transition to transversion (Ti/Tv) of autosomal SNPs identified in different

provinces and geographical divisions of China. b The ratios of heterozygous to

homozygous (Het/Hom) of autosomal SNPs identified in different provinces and

geographical divisions of China. c The number of autosomal singleton SNPs

identified in different provinces and geographical divisions of China. d The number

of autosomal singleton INDELs identified in different provinces and geographical

divisions of China. e The ratios of transition to transversion (Ti/Tv) of autosomal

SNPs, ratio of heterozygous to homozygous (Het/Hom) of autosomal SNPs, number

of autosomal singleton SNPs and INDELs identified in ethnic groups. f The number

of autosomal singleton SNPs and INDELs identified in related and unrelated

participants.