Variant report
Variant | nsv597984 |
---|---|
Chromosome Location | chr5:45406321-46228333 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1751)
- CpG islands (count:1222)
- Chromatin interactive region (count:27)
- LncRNA region (count:5)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ATF1 | chr5:45520472-45520538 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr5:45779869-45779893 | K562 | blood: | n/a | n/a |
3 | ATF2 | chr5:45793733-45794112 | GM12878 | blood: | n/a | n/a |
4 | ATF2 | chr5:45793625-45794610 | GM12878 | blood: | n/a | n/a |
5 | BACH1 | chr5:45622547-45622743 | K562 | blood: | n/a | n/a |
6 | BACH1 | chr5:46078760-46079137 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | BACH1 | chr5:45694432-45694821 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | BACH1 | chr5:45695045-45695509 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | BACH1 | chr5:45622469-45623083 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | BACH1 | chr5:45696406-45696585 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | BATF | chr5:45793742-45794099 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr5:45793691-45794568 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr5:45794116-45794419 | GM12878 | blood: | n/a | n/a |
14 | BCL11A | chr5:45793646-45794647 | GM12878 | blood: | n/a | n/a |
15 | BCL11A | chr5:45794121-45794555 | GM12878 | blood: | n/a | n/a |
16 | BCL11A | chr5:45793739-45794103 | GM12878 | blood: | n/a | n/a |
17 | BCL11A | chr5:46093351-46093544 | GM12878 | blood: | n/a | n/a |
18 | BCL11A | chr5:45848140-45848326 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BHLHE40 | chr5:45799491-45799496 | GM12878 | blood: | n/a | n/a |
20 | BHLHE40 | chr5:45793537-45794787 | GM12878 | blood: | n/a | n/a |
21 | BRCA1 | chr5:45624018-45624277 | Hela-S3 | cervix: | n/a | n/a |
22 | BRCA1 | chr5:45412229-45412265 | Hela-S3 | cervix: | n/a | n/a |
23 | BRCA1 | chr5:45564807-45564864 | Hela-S3 | cervix: | n/a | n/a |
24 | BRCA1 | chr5:45551191-45551382 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | BRCA1 | chr5:45696466-45696687 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | CEBPB | chr5:45696413-45696683 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | CEBPB | chr5:45787427-45787684 | IMR90 | lung: | n/a | chr5:45787597-45787608 |
28 | CEBPB | chr5:45417169-45418084 | Hela-S3 | cervix: | n/a | chr5:45417980-45417993 |
29 | CEBPB | chr5:45905613-45905883 | MCF-7 | breast: | n/a | n/a |
30 | CEBPB | chr5:45822073-45822347 | HepG2 | liver: | n/a | chr5:45822202-45822215 chr5:45822242-45822253 chr5:45822202-45822213 |
31 | CEBPB | chr5:45893475-45893744 | Hela-S3 | cervix: | n/a | chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606 |
32 | CEBPB | chr5:45893506-45893786 | IMR90 | lung: | n/a | chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606 |
33 | CEBPB | chr5:45443682-45444157 | IMR90 | lung: | n/a | chr5:45444028-45444039 chr5:45443784-45443795 chr5:45443784-45443797 |
34 | CEBPB | chr5:45529506-45529762 | HepG2 | liver: | n/a | chr5:45529613-45529626 chr5:45529613-45529624 chr5:45529614-45529625 chr5:45529615-45529624 |
35 | CEBPB | chr5:46096674-46097051 | Hela-S3 | cervix: | n/a | n/a |
36 | CEBPB | chr5:45609832-45610172 | Hela-S3 | cervix: | n/a | n/a |
37 | CEBPB | chr5:45443698-45444134 | HepG2 | liver: | n/a | chr5:45444028-45444039 chr5:45443784-45443795 chr5:45443784-45443797 |
38 | CEBPB | chr5:45775648-45775852 | HepG2 | liver: | n/a | chr5:45775697-45775708 chr5:45775698-45775709 chr5:45775697-45775710 chr5:45775697-45775710 chr5:45775697-45775710 |
39 | CEBPB | chr5:45684266-45684560 | HepG2 | liver: | n/a | chr5:45684417-45684428 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684416-45684427 chr5:45684418-45684427 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684418-45684427 |
40 | CEBPB | chr5:45740115-45740413 | HepG2 | liver: | n/a | chr5:45740245-45740256 |
41 | CEBPB | chr5:45454133-45454270 | HepG2 | liver: | n/a | chr5:45454221-45454232 |
42 | CEBPB | chr5:45684241-45684601 | IMR90 | lung: | n/a | chr5:45684417-45684428 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684416-45684427 chr5:45684418-45684427 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684418-45684427 |
43 | CEBPB | chr5:46096749-46097008 | IMR90 | lung: | n/a | n/a |
44 | CEBPB | chr5:45654044-45654385 | IMR90 | lung: | n/a | chr5:45654198-45654211 chr5:45654198-45654211 chr5:45654198-45654209 chr5:45654198-45654211 |
45 | CEBPB | chr5:45588337-45588611 | HepG2 | liver: | n/a | n/a |
46 | CEBPB | chr5:45893462-45893790 | HepG2 | liver: | n/a | chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606 |
47 | CEBPB | chr5:46096802-46097001 | A549 | lung: | n/a | n/a |
48 | CEBPB | chr5:45654072-45654347 | HepG2 | liver: | n/a | chr5:45654198-45654211 chr5:45654198-45654211 chr5:45654198-45654209 chr5:45654198-45654211 |
49 | CEBPB | chr5:45787466-45787674 | HepG2 | liver: | n/a | chr5:45787597-45787608 |
50 | CEBPB | chr5:45740075-45740364 | A549 | lung: | n/a | chr5:45740245-45740256 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:45696465-45696515 | SK-N-MC | brain: | n/a |
2 | chr5:45695643-45695693 | HPAEpiC | pulmonary alveolar: | n/a |
3 | chr5:45696465-45696515 | SK-N-MC | brain: | n/a |
4 | chr5:45695643-45695693 | HPAEpiC | pulmonary alveolar: | n/a |
5 | chr5:45696592-45696642 | HL-60 | blood: | n/a |
6 | chr5:45696206-45696256 | HL-60 | blood: | n/a |
7 | chr5:45499395-45499445 | NHDF-neo | bronchial: | n/a |
8 | chr5:45694523-45694573 | HL-60 | blood: | n/a |
9 | chr5:45695241-45695291 | BJ | skin: | n/a |
10 | chr5:45695643-45695693 | NH-A | brain: | n/a |
11 | chr5:45700402-45700452 | Caco-2 | colon: | n/a |
12 | chr5:45695922-45695972 | SK-N-MC | brain: | n/a |
13 | chr5:45678610-45678660 | K562 | blood: | n/a |
14 | chr5:45695922-45695972 | HEEpiC | esophagus: | n/a |
15 | chr5:45678610-45678660 | AG04450 | lung: | fetal |
16 | chr5:45695467-45695517 | HPAEpiC | pulmonary alveolar: | n/a |
17 | chr5:45693264-45693314 | MCF10A-Er-Src | breast: | n/a |
18 | chr5:45649048-45649098 | HCPEpiC | choroid plexus: | n/a |
19 | chr5:45696592-45696642 | HRE | kidney: | n/a |
20 | chr5:45695839-45695889 | Hela-S3 | cervix: | n/a |
21 | chr5:45499395-45499445 | K562 | blood: | n/a |
22 | chr5:45696592-45696642 | Hela-S3 | cervix: | n/a |
23 | chr5:45696928-45696978 | HPAEpiC | pulmonary alveolar: | n/a |
24 | chr5:45696206-45696256 | Caco-2 | colon: | n/a |
25 | chr5:45695467-45695517 | HIPEpiC | eye: | n/a |
26 | chr5:45569042-45569092 | IMR90 | lung: | fetal |
27 | chr5:45693264-45693314 | AG09309 | skin: | n/a |
28 | chr5:45696455-45696505 | ovcar-3 | ovarian: | n/a |
29 | chr5:45700402-45700452 | MCF-7 | breast: | n/a |
30 | chr5:45553518-45553568 | AG04450 | lung: | fetal |
31 | chr5:45696465-45696515 | HCF | heart: | n/a |
32 | chr5:45695839-45695889 | HUVEC | blood vessel: | n/a |
33 | chr5:45695241-45695291 | ovcar-3 | ovarian: | n/a |
34 | chr5:45695241-45695291 | AG09309 | skin: | n/a |
35 | chr5:45695922-45695972 | A549 | lung: | n/a |
36 | chr5:45696491-45696541 | NB4 | blood: | n/a |
37 | chr5:45695922-45695972 | HCM | heart: | n/a |
38 | chr5:45696928-45696978 | T-47D | breast: | n/a |
39 | chr5:45696455-45696505 | RPTEC | kidney: | n/a |
40 | chr5:45696491-45696541 | RPTEC | kidney: | n/a |
41 | chr5:45693264-45693314 | HPAEpiC | pulmonary alveolar: | n/a |
42 | chr5:45695839-45695889 | ECC-1 | luminal epithelium: | n/a |
43 | chr5:45499395-45499445 | GM12878 | blood: | n/a |
44 | chr5:45693264-45693314 | HAEpiC | amniotic membrane: | n/a |
45 | chr5:45695467-45695517 | MCF10A-Er-Src | breast: | n/a |
46 | chr5:45649048-45649098 | AG04449 | skin: | fetal |
47 | chr5:45696592-45696642 | HRPEpiC | eye: | n/a |
48 | chr5:45649048-45649098 | AG10803 | skin: | n/a |
49 | chr5:45569042-45569092 | NHBE | bronchial: | n/a |
50 | chr5:45696928-45696978 | HEK293 | kidney: | embryo |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:45688826..45690382-chr5:45691879..45693420,2 | K562 | blood: | |
2 | chr5:45700474..45703420-chr5:45719507..45722171,2 | MCF-7 | breast: | |
3 | chr11:62608627..62609151-chr5:45773998..45774657,2 | MCF-7 | breast: | |
4 | chr17:56742322..56745282-chr5:45859385..45861280,2 | MCF-7 | breast: | |
5 | chr5:45700474..45703420-chr5:45719507..45722171,2 | MCF-7 | breast: | |
6 | chr5:45038409..45039119-chr5:45520902..45521831,4 | MCF-7 | breast: | |
7 | chr5:45635537..45637341-chr5:45642108..45644494,2 | K562 | blood: | |
8 | chr5:45435601..45437646-chr5:45441992..45444757,2 | K562 | blood: | |
9 | chr5:45423533..45425292-chr5:45434104..45435924,2 | MCF-7 | breast: | |
10 | chr4:68265057..68265577-chr5:46205420..46205943,2 | MCF-7 | breast: | |
11 | chr15:66571588..66572090-chr5:45541388..45542303,2 | MCF-7 | breast: | |
12 | chr5:45468898..45471467-chr5:45477657..45479826,2 | MCF-7 | breast: | |
13 | chr5:45038244..45038751-chr5:45773997..45774955,2 | MCF-7 | breast: | |
14 | chr5:44952200..44952811-chr5:45521283..45521849,2 | MCF-7 | breast: | |
15 | chr5:45468898..45471467-chr5:45477657..45479826,2 | MCF-7 | breast: | |
16 | chr13:55537336..55537947-chr5:45562607..45563107,2 | MCF-7 | breast: | |
17 | chr5:45435601..45437646-chr5:45441992..45444757,2 | K562 | blood: | |
18 | chr5:45688826..45690382-chr5:45691879..45693420,2 | K562 | blood: | |
19 | chr5:44952363..44953098-chr5:45773975..45774930,2 | MCF-7 | breast: | |
20 | chr1:175202235..175203755-chr5:46204424..46205944,2 | MCF-7 | breast: | |
21 | chr5:44952326..44952886-chr5:45639183..45639775,2 | MCF-7 | breast: | |
22 | chr5:45423533..45425292-chr5:45434104..45435924,2 | MCF-7 | breast: | |
23 | chr5:45487505..45488239-chr6:10695353..10695968,2 | MCF-7 | breast: | |
24 | chr1:205318512..205319277-chr5:45469628..45470349,2 | MCF-7 | breast: | |
25 | chr5:45635537..45637341-chr5:45642108..45644494,2 | K562 | blood: | |
26 | chr5:45232284..45234490-chr5:45416046..45418115,2 | MCF-7 | breast: | |
27 | chr1:63102529..63105125-chr5:46100658..46103318,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MRPS30-14 | chr5:45752904-45753159 | NONHSAT101363 |
2 | lnc-MRPS30-13 | chr5:45574692-45576714 | NONHSAT101361 |
3 | lnc-MRPS30-14 | chr5:45753168-45753300 | NONHSAT101363 |
4 | lnc-MRPS30-14 | chr5:45749057-45749335 | NONHSAT101363 |
5 | lnc-MRPS30-12 | chr5:45558021-45560088 | NONHSAT101360 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000250122 | TF binding region |
HCN1 | TF binding region |
ENSG00000250017 | TF binding region |
ENSG00000250422 | TF binding region |
ENSG00000250122 | CpG island |
HCN1 | CpG island |
ENSG00000250017 | CpG island |
ENSG00000250422 | CpG island |
ENSG00000199426 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs6414906 | chr5:45406321-45406322 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs142022304 | chr5:45406333-45406334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs542184713 | chr5:45406348-45406349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs570575639 | chr5:45406389-45406390 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs6899193 | chr5:45406437-45406438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs531467679 | chr5:45406486-45406487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs374788323 | chr5:45406571-45406572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs115757573 | chr5:45406611-45406612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs527774079 | chr5:45406754-45406755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs541494059 | chr5:45406902-45406903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs560390590 | chr5:45406949-45406950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs113862974 | chr5:45406966-45406967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs193222205 | chr5:45406968-45406969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs73101207 | chr5:45407009-45407010 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs531257235 | chr5:45407022-45407023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs552111013 | chr5:45407092-45407093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs548161493 | chr5:45407180-45407181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs184425669 | chr5:45407231-45407232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs533644622 | chr5:45407246-45407247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs547062677 | chr5:45407248-45407249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs570727734 | chr5:45407275-45407276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs189358743 | chr5:45407282-45407283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs181406379 | chr5:45407293-45407294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs185426480 | chr5:45407296-45407297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs535521629 | chr5:45407316-45407317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs189117693 | chr5:45407351-45407352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs549489850 | chr5:45407374-45407375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs150659243 | chr5:45407382-45407383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs558601106 | chr5:45407400-45407401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs181559165 | chr5:45407509-45407510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs139895958 | chr5:45407554-45407555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs564535445 | chr5:45407581-45407582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs143480557 | chr5:45407658-45407659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs185706655 | chr5:45407683-45407684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs562483689 | chr5:45407703-45407704 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs562683228 | chr5:45407772-45407773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs531643518 | chr5:45407810-45407811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs147167214 | chr5:45407815-45407816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs376929906 | chr5:45407831-45407832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs372490583 | chr5:45407857-45407858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs140449312 | chr5:45407892-45407893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs547122774 | chr5:45407893-45407894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs570190079 | chr5:45407907-45407908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs539690796 | chr5:45407956-45407957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs576923397 | chr5:45408127-45408128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs568094382 | chr5:45408142-45408143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs570106879 | chr5:45408260-45408261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs536146826 | chr5:45408283-45408284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs556065572 | chr5:45408356-45408357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs572486205 | chr5:45408360-45408361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 16608533 | CNVD |
Autism | 22495311 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Lung cancer | 18438408 | CNVD |
Glioma | 20126413 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 22032731 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Breast cancer | 17133270 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Breast cancer | 17393978 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Intellectual disability | 21811512 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cancer | 21359685 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164920 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Bipolar disorder | 19114987 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:45403800-45410600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr5:45404200-45419200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
3 | chr5:45407600-45410800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
4 | chr5:45410200-45411400 | Enhancers | Fetal Heart | heart |
5 | chr5:45410400-45412600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
6 | chr5:45410600-45411000 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr5:45410800-45411000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
8 | chr5:45410800-45411200 | Enhancers | Hela-S3 | cervix |
9 | chr5:45411000-45411200 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr5:45411000-45411600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
11 | chr5:45411000-45412000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
12 | chr5:45411200-45411400 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
13 | chr5:45411200-45411600 | Weak transcription | Hela-S3 | cervix |
14 | chr5:45411600-45412000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
15 | chr5:45411600-45412800 | Enhancers | Hela-S3 | cervix |
16 | chr5:45411800-45412600 | Enhancers | Fetal Intestine Small | intestine |
17 | chr5:45412000-45412600 | Enhancers | HUVEC | blood vessel |
18 | chr5:45412000-45412800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
19 | chr5:45412000-45412800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
20 | chr5:45412000-45412800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
21 | chr5:45412000-45413000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
22 | chr5:45412400-45413000 | Enhancers | H1 Cell Line | embryonic stem cell |
23 | chr5:45412400-45413000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
24 | chr5:45412600-45414200 | Weak transcription | Fetal Intestine Small | intestine |
25 | chr5:45412600-45415400 | Weak transcription | Pancreas | Pancrea |
26 | chr5:45412800-45413000 | Enhancers | Fetal Intestine Large | intestine |
27 | chr5:45412800-45416800 | Weak transcription | Hela-S3 | cervix |
28 | chr5:45413200-45414200 | Weak transcription | Fetal Intestine Large | intestine |
29 | chr5:45414200-45416000 | Enhancers | Fetal Intestine Large | intestine |
30 | chr5:45414200-45416000 | Enhancers | Fetal Intestine Small | intestine |
31 | chr5:45414600-45415000 | Enhancers | Liver | Liver |
32 | chr5:45414600-45415600 | Enhancers | Rectal Mucosa Donor 31 | rectum |
33 | chr5:45414600-45415800 | Enhancers | Rectal Mucosa Donor 29 | rectum |
34 | chr5:45415400-45415800 | Enhancers | Pancreas | Pancrea |
35 | chr5:45416000-45417200 | Weak transcription | Fetal Intestine Small | intestine |
36 | chr5:45416800-45418000 | Enhancers | Hela-S3 | cervix |
37 | chr5:45417200-45418000 | Enhancers | Fetal Intestine Small | intestine |
38 | chr5:45419000-45419400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
39 | chr5:45419200-45419400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
40 | chr5:45426400-45426800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
41 | chr5:45426600-45427400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
42 | chr5:45436200-45436400 | Enhancers | Skeletal Muscle Male | skeletal muscle |
43 | chr5:45436600-45437600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
44 | chr5:45437000-45438000 | Active TSS | Skeletal Muscle Female | skeletal muscle |
45 | chr5:45437600-45437800 | Active TSS | Skeletal Muscle Male | skeletal muscle |
46 | chr5:45437800-45438000 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
47 | chr5:45438000-45438400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
48 | chr5:45438000-45440600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
49 | chr5:45438400-45439600 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
50 | chr5:45440600-45440800 | Enhancers | Lung | lung |