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Table 1 Archaic SNPs in the LWK population (1000 genome project). The table indicates the average number of block SNPs and singletons in the archaic linkage blocks of LWK and summarizes the distribution of the archaic alleles in structurally defined genomic sub-regions as well as in regions defined by ChIP-seq tracks. Numbers indicate the absolute count of archaic SNPs detected in the region; numbers in brackets indicate the percentage in reference to the total amount of the respective SNP type

From: Analysis of archaic human haplotypes suggests that 5hmC acts as an epigenetic guide for NCO recombination

Type of archaic SNP

Average number of SNPs per linkage block*

Distribution of archaic SNPs

Complete genome

Genic region

HLA genes (MHC I and II)

CpG Island (CGI)

Open chromatin (DNase I)a

Recomb. hotspot (DCM1)b

H3K4me3/H3K27me3 (bivalent)a

5mC tracksc

5hmC tracksd

Block SNP

4.30

1021071

379447

5278

9105

178314

10424

33888

776586

11914

(53.81)

(37.16)

(0.52)

(0.89)

(17.46)

(1.02)

(3.32)

(88.60)

(1.17)

Singleton

3.69

876329

353376

3025

15175

196934

56698

49900

656974

22400

(46.19)

(40.32)

(0.35)

(1.73)

(22.47)

(6.47)

(5.69)

(86.90)

(2.56)

Total

8.00

1897400

732823

8303

24280

375248

67122

83788

1433560

34314

(100.00)

(38.62)

(0.44)

(1.28)

(19.78)

(3.54)

(4.42)

(87.81)

(1.81)

  1. *237,312 linkage blocks (2–500 SNPs, average size: 20.3 kb)
  2. aENCODE-tracks [18, 19]
  3. bHuman testis [20]
  4. cH1 stem cells, partial coverage [1]
  5. dH1 stem cells [21]