Sequence features in regions of weak and strong linkage disequilibrium

Table 6.

Sequence composition in hotspots for the rapid breakdown of linkage disequilibrium and other intervals



CEU sample

YRI sample

CHB+JPT sample

Hotspots
Other intervals
Hotspots
Other intervals
Hotspots
Other intervals
Number of intervals 14,525 702,099 15,623 750,857 12,607 610,826
Basic sequence features
    GC content 4379 4056** 4404 4052** 4395 4067**
    CpG islands 72 58 68 56 78 60*
    Polymorphism (π) 13.49 12.33** 13.68 12.15** 13.85 12.49**
Genes and related features
    Genic bases (exon, intron, UTR) 3608 3862** 3543 3835** 3787 3916
    Coding bases 135 131 126 128 143 141
    Exonic bases 273 248 255 240 295 261
    Intronic bases 3385 3663** 3341 3643** 3556 3707*
    UTR (3′ and 5′) 138 117 129 112 152 120*
Other features
    Bases in transcription factor binding sites 124 114** 122 113* 128 115**
    Bases in transcribed fragmentsa 292 280 296 269 290 289
    Predictions of conserved elements (phastCons) 579 532** 560 528* 594 537**
    Identical base in alignment with M. musculus 3112 2889** 3141 2908** 3050 2874**
    Identical base in alignment with R. norvegicus 2999 2803** 3036 2823** 2957 2787**
    Conserved noncoding sequence 183 157** 180 157** 193 157**
Repeat content
    Total bases in repeats 3717 4113** 3732 4142** 3667 4086**
    Bases in LINE repeats 1237 1716** 1249 1741** 1224 1703**
    Bases in SINE repeats 1295 1161** 1281 1160** 1277 1155**
    Bases in LTR repeats 741 774 744 783 722 771*
    Bases in DNA repeats 287 303 294 304 289 302
    Bases in simple repeats 93 79** 93 78** 92 80*
    Bases in low complexity repeats 57 56 56 56 56 56
    Bases in satellite repeats 4 14** 7 10 2 12**
    Bases in other repeats
3
7**
5
7
3
7**
  • a Only applies to chromosomes 6, 7, 13, 14, 18, 19, 20, 21, 22, and X.

  • * Hotspots and other intervals differ significantly at P < 0.001 level.

  • ** Hotspots and other intervals differ significantly at P < 0.000001 level.

    ** Average sequence composition (per 10,000 bases) is presented for hotspots and control intervals.

This Article

  1. Genome Res. 15: 1519-1534

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