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.











