Variant report
Variant | nsv574505 |
---|---|
Chromosome Location | chr17:16688280-16718715 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:122)
- CpG islands (count:244)
- Chromatin interactive region (count:0)
- LncRNA region (count:6)
- Mature miRNA region (count: 0)
- miRNA target sites (count:1)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BATF | chr17:16710949-16711369 | GM12878 | blood: | n/a | chr17:16711188-16711198 chr17:16711187-16711198 |
2 | BATF | chr17:16711019-16711268 | GM12878 | blood: | n/a | chr17:16711188-16711198 chr17:16711187-16711198 |
3 | CTCF | chr17:16709100-16709250 | MCF-7 | breast: | n/a | n/a |
4 | CTCF | chr17:16693666-16693776 | Gliobla | brain: | n/a | n/a |
5 | CTCF | chr17:16693613-16693949 | K562 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
6 | CTCF | chr17:16693703-16693870 | LNCaP | prostate: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
7 | CTCF | chr17:16716458-16716534 | GM13976 | blood: | n/a | n/a |
8 | CTCF | chr17:16693608-16693964 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
9 | CTCF | chr17:16693580-16693730 | HVMF | connective: | n/a | n/a |
10 | CTCF | chr17:16718040-16718190 | WERI-Rb-1 | eye: | n/a | n/a |
11 | CTCF | chr17:16693769-16693797 | Lung_OC | lung: | n/a | chr17:16693771-16693787 |
12 | CTCF | chr17:16693659-16693884 | Pancreas_OC | pancreas: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
13 | CTCF | chr17:16693636-16693890 | K562 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
14 | CTCF | chr17:16693701-16693855 | GM13977 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
15 | CTCF | chr17:16709080-16709230 | AG09319 | gingival: | n/a | n/a |
16 | CTCF | chr17:16693590-16693959 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
17 | CTCF | chr17:16693711-16693841 | GM10248 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
18 | CTCF | chr17:16693742-16693846 | GM10266 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
19 | CTCF | chr17:16701275-16701353 | A549 | lung: | n/a | n/a |
20 | CTCF | chr17:16709100-16709250 | HBMEC | blood vessel: | n/a | n/a |
21 | CTCF | chr17:16693600-16693750 | HCM | heart: | n/a | n/a |
22 | CTCF | chr17:16693733-16693826 | GM20000 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
23 | CTCF | chr17:16693560-16693710 | HVMF | connective: | n/a | n/a |
24 | CTCF | chr17:16693682-16693912 | Kidney_OC | kidney: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
25 | CTCF | chr17:16693582-16693901 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
26 | CTCF | chr17:16693540-16693690 | Caco-2 | colon: | n/a | n/a |
27 | CTCF | chr17:16709100-16709250 | K562 | blood: | n/a | n/a |
28 | CTCF | chr17:16693743-16693772 | HepG2 | liver: | n/a | n/a |
29 | CTCF | chr17:16693746-16693757 | K562 | blood: | n/a | n/a |
30 | CTCF | chr17:16713824-16713893 | GM13976 | blood: | n/a | n/a |
31 | CTCF | chr17:16693860-16694010 | SAEC | small airway: | n/a | n/a |
32 | CTCF | chr17:16693534-16693984 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
33 | CTCF | chr17:16693540-16693690 | GM06990 | blood: | n/a | n/a |
34 | CTCF | chr17:16693640-16693918 | K562 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
35 | CTCF | chr17:16693920-16694070 | HBMEC | blood vessel: | n/a | n/a |
36 | CTCF | chr17:16714100-16714250 | NB4 | blood: | n/a | n/a |
37 | CTCF | chr17:16693920-16694070 | HMEC | breast: | n/a | n/a |
38 | CTCF | chr17:16709080-16709230 | HMF | breast: | n/a | n/a |
39 | CTCF | chr17:16693900-16694050 | HMEC | breast: | n/a | n/a |
40 | CTCF | chr17:16693690-16693882 | Medullo | brain: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
41 | CTCF | chr17:16693580-16693730 | SAEC | small airway: | n/a | n/a |
42 | CTCF | chr17:16693736-16693844 | LNCaP | prostate: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
43 | FOXA1 | chr17:16708436-16708696 | T-47D | breast: | n/a | n/a |
44 | FOXA1 | chr17:16715538-16715748 | T-47D | breast: | n/a | n/a |
45 | GATA2 | chr17:16697238-16697635 | K562 | blood: | n/a | chr17:16697444-16697465 chr17:16697438-16697451 |
46 | HCFC1 | chr17:16715633-16715667 | K562 | blood: | n/a | n/a |
47 | IRF4 | chr17:16710955-16711450 | GM12878 | blood: | n/a | n/a |
48 | IRF4 | chr17:16710910-16711331 | GM12878 | blood: | n/a | n/a |
49 | MAX | chr17:16715518-16715782 | K562 | blood: | n/a | n/a |
50 | MAX | chr17:16715638-16715647 | Hela-S3 | cervix: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:16690173-16690223 | MCF10A-Er-Src | breast: | n/a |
2 | chr17:16690173-16690223 | HAEpiC | amniotic membrane: | n/a |
3 | chr17:16690169-16690219 | SK-N-SH | brain: | n/a |
4 | chr17:16688816-16688866 | HCM | heart: | n/a |
5 | chr17:16690173-16690223 | NHDF-neo | bronchial: | n/a |
6 | chr17:16688816-16688866 | HEEpiC | esophagus: | n/a |
7 | chr17:16688816-16688866 | GM06990 | blood: | n/a |
8 | chr17:16693633-16693683 | AoSMC | blood vessel: | n/a |
9 | chr17:16693633-16693683 | GM12892 | blood: | n/a |
10 | chr17:16688816-16688866 | MCF-7 | breast: | n/a |
11 | chr17:16690169-16690219 | GM12892 | blood: | n/a |
12 | chr17:16693633-16693683 | HUVEC | blood vessel: | n/a |
13 | chr17:16690169-16690219 | HMEC | breast: | n/a |
14 | chr17:16693633-16693683 | SK-N-MC | brain: | n/a |
15 | chr17:16688816-16688866 | ECC-1 | luminal epithelium: | n/a |
16 | chr17:16693633-16693683 | BJ | skin: | n/a |
17 | chr17:16693633-16693683 | HRE | kidney: | n/a |
18 | chr17:16690173-16690223 | HIPEpiC | eye: | n/a |
19 | chr17:16688816-16688866 | SKMC | muscle: | n/a |
20 | chr17:16693633-16693683 | PrEC | prostate: | n/a |
21 | chr17:16690173-16690223 | HEEpiC | esophagus: | n/a |
22 | chr17:16688816-16688866 | HAEpiC | amniotic membrane: | n/a |
23 | chr17:16690173-16690223 | SK-N-SH | brain: | n/a |
24 | chr17:16688816-16688866 | HMEC | breast: | n/a |
25 | chr17:16690173-16690223 | HRCEpiC | kidney: | n/a |
26 | chr17:16690173-16690223 | PANC-1 | pancreas: | n/a |
27 | chr17:16693633-16693683 | NB4 | blood: | n/a |
28 | chr17:16693633-16693683 | GM19239 | blood: | n/a |
29 | chr17:16690173-16690223 | PrEC | prostate: | n/a |
30 | chr17:16688816-16688866 | PrEC | prostate: | n/a |
31 | chr17:16690169-16690219 | IMR90 | lung: | fetal |
32 | chr17:16688816-16688866 | GM12892 | blood: | n/a |
33 | chr17:16690169-16690219 | H1-hESC | embryonic stem cell: | embryo |
34 | chr17:16688816-16688866 | HIPEpiC | eye: | n/a |
35 | chr17:16690169-16690219 | SK-N-MC | brain: | n/a |
36 | chr17:16693633-16693683 | T-47D | breast: | n/a |
37 | chr17:16688816-16688866 | Hela-S3 | cervix: | n/a |
38 | chr17:16693633-16693683 | NHDF-neo | bronchial: | n/a |
39 | chr17:16693633-16693683 | HCPEpiC | choroid plexus: | n/a |
40 | chr17:16690169-16690219 | U87 | brain: | n/a |
41 | chr17:16690173-16690223 | NH-A | brain: | n/a |
42 | chr17:16690173-16690223 | ovcar-3 | ovarian: | n/a |
43 | chr17:16693633-16693683 | HIPEpiC | eye: | n/a |
44 | chr17:16688816-16688866 | NT2-D1 | testis: | n/a |
45 | chr17:16693633-16693683 | HEEpiC | esophagus: | n/a |
46 | chr17:16690173-16690223 | GM12878 | blood: | n/a |
47 | chr17:16688816-16688866 | Hepatocyte | liver: | n/a |
48 | chr17:16688816-16688866 | GM12891 | blood: | n/a |
49 | chr17:16693633-16693683 | A549 | lung: | n/a |
50 | chr17:16690173-16690223 | HRE | kidney: | n/a |
No data |
(count:6 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AC104024.2.1-3 | chr17:16692215-16692721 | NONHSAT146007 |
2 | lnc-CCDC144A-1 | chr17:16708772-16709021 | ENSG00000264729.1 |
3 | lnc-CCDC144A-1 | chr17:16707941-16707992 | ENSG00000264729.1 |
4 | lnc-KRT17P1-1 | chr17:16691922-16692548 | ENSG00000264673.1 |
5 | lnc-AC104024.2.1-3 | chr17:16692057-16693815 | NONHSAT146006 |
6 | lnc-KRT17P1-1 | chr17:16691562-16691620 | ENSG00000264673.1 |
No data |
(count:1 , 50 per page) page:
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | LOC162632 | hsa-miR-26b-5p | chr17:16707023-16707045 |
Variant related genes | Relation type |
---|---|
ENSG00000264673 | TF binding region |
USP32P1 | TF binding region |
ENSG00000272815 | TF binding region |
SRP68P1 | TF binding region |
ENSG00000264729 | TF binding region |
FAM106CP | TF binding region |
ENSG00000264892 | TF binding region |
ENSG00000264673 | CpG island |
USP32P1 | CpG island |
ENSG00000272815 | CpG island |
SRP68P1 | CpG island |
ENSG00000264729 | CpG island |
FAM106CP | CpG island |
ENSG00000264892 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7222574 | chr17:16688280-16688281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs566628989 | chr17:16688362-16688363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs529088743 | chr17:16688395-16688396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs59823299 | chr17:16688436-16688437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs373756641 | chr17:16688476-16688477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569146296 | chr17:16688519-16688520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs142515014 | chr17:16688541-16688542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs557303406 | chr17:16688633-16688634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs570559810 | chr17:16688647-16688648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs539539388 | chr17:16688702-16688703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs187100485 | chr17:16688808-16688809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs573054298 | chr17:16688864-16688865 | Weak transcription | CpG island | 3 gene(s) | Overlapped CNVs | n/a |
13 | rs9895733 | chr17:16688865-16688866 | Weak transcription | CpG island | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs555751661 | chr17:16688934-16688935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs150954823 | chr17:16689024-16689025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs544625036 | chr17:16689125-16689126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs564060391 | chr17:16689134-16689135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs577722102 | chr17:16689177-16689178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs540284643 | chr17:16689195-16689196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs560308788 | chr17:16689381-16689382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs529043631 | chr17:16689472-16689473 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs549143529 | chr17:16689501-16689502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs562567647 | chr17:16689512-16689513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs531632678 | chr17:16689704-16689705 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
25 | rs192162063 | chr17:16689720-16689721 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
26 | rs551305434 | chr17:16689729-16689730 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
27 | rs141703044 | chr17:16689738-16689739 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
28 | rs570474343 | chr17:16689792-16689793 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
29 | rs111334241 | chr17:16689815-16689816 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
30 | rs539454347 | chr17:16689832-16689833 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
31 | rs2948628 | chr17:16689862-16689863 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
32 | rs2948627 | chr17:16689870-16689871 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
33 | rs113578165 | chr17:16689874-16689875 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
34 | rs183934883 | chr17:16689878-16689879 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
35 | rs550938379 | chr17:16689879-16689880 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
36 | rs778669 | chr17:16689888-16689889 | Weak transcription | TF binding region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs555908972 | chr17:16689931-16689932 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
38 | rs187374667 | chr17:16689955-16689956 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
39 | rs654177 | chr17:16689971-16689972 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
40 | rs558492307 | chr17:16690149-16690150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs577684723 | chr17:16690169-16690170 | Weak transcription | CpG island | 3 gene(s) | Overlapped CNVs | n/a |
42 | rs540246096 | chr17:16690197-16690198 | Weak transcription | CpG island | 3 gene(s) | Overlapped CNVs | n/a |
43 | rs560222195 | chr17:16690221-16690222 | Weak transcription | CpG island | 3 gene(s) | Overlapped CNVs | n/a |
44 | rs112570190 | chr17:16690240-16690241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs573657581 | chr17:16690393-16690394 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
46 | rs542406929 | chr17:16690394-16690395 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
47 | rs562696232 | chr17:16690402-16690403 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
48 | rs531417975 | chr17:16690410-16690411 | Weak transcription | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
49 | rs551217753 | chr17:16690656-16690657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs564857881 | chr17:16690684-16690685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Chordoma | 21602918 | CNVD |
Miller-Dieker syndrome | 22283845 | CNVD |
Non-syndromic sensorineural hearing loss | 17457615 | CNVD |
Cancer | 22429812 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 20837533 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
colon cancer | 17210682 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Chronic lymphocytic leukemia | 17971485 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Breast cancer | 16461572 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Moyamoya disease | 22323933 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20724749 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Colorectal cancer | 21645411 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
HIV/AIDS | 17953491 | CNVD |
HIV/AIDS | 20877625 | CNVD |
Immune disease | 21076436 | CNVD |
Rheumatoid arthritis | 17953491 | CNVD |
Type 1 diabetes | 17953491 | CNVD |
HIV/AIDS | 15637236 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Neurofibromatosis | 18196300 | CNVD |
Adenoid cystic carcinoma | 18332873 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Breast cancer | 17001317 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Charcot-marie-tooth disease | 16463004 | CNVD |
Osteosarcoma | 22292074 | CNVD |
Breast cancer | 17603634 | CNVD |
Charcot | 16760730 | CNVD |
Mental retardation | 17901693 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
ovarian endometriomas | 16273235 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Gastric cancer | 18160780 | CNVD |
Smith-Magenis syndrome | 18923513 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 22492990 | CNVD |
Congenital abnormalities | 21549014 | CNVD |
Developmental delay | 18414209 | CNVD |
Developmental delay | 21549014 | CNVD |
Epilepsy | 20970697 | CNVD |
Mental retardation | 18414209 | CNVD |
Mental retardation | 21549014 | CNVD |
Smith-Magenis syndrome | 21981782 | CNVD |
Smith-Magenis syndrome | 20188345 | CNVD |
Smith-Magenis syndrome | 16775514 | CNVD |
Smith-Magenis syndrome | 22585170 | CNVD |
Smith-Magenis syndrome | 22241247 | CNVD |
Autism | 20970697 | CNVD |
Mental retardation | 19951919 | CNVD |
Potocki-Lupski syndrome | 21271655 | CNVD |
Potocki-lupski syndrome | 17357070 | CNVD |
Potocki-lupski syndrome | 20110824 | CNVD |
Potocki-lupski syndrome | 18923514 | CNVD |
Potocki-lupski syndrome | 22241247 | CNVD |
Potocki-lupski syndrome | 20188345 | CNVD |
Schizophrenia | 21399695 | CNVD |
Mental retardation | 16773131 | CNVD |
Adenocarcinoma | 19607727 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Charcot-marie-tooth disease | 22470819 | CNVD |
Neurofibromatosis | 22470819 | CNVD |
Neuropathy | 22470819 | CNVD |
Smith-Magenis syndrome | 18301319 | CNVD |
Smith-Magenis syndrome | 17357070 | CNVD |
Smith-Magenis syndrome | 18469339 | CNVD |
Smith-Magenis syndrome | 22241097 | CNVD |
Smith-Magenis syndrome | 22470819 | CNVD |
Tourette syndrome | 18923514 | CNVD |
Type 1 diabetes | 22470819 | CNVD |
Potocki-lupski syndrome | 18469339 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Neuropathy | 17597781 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Smith-Magenis syndrome | 17597781 | CNVD |
Potocki-lupski syndrome | 18059269 | CNVD |
Potocki-lupski syndrome | 17597781 | CNVD |
Mental retardation | 17847001 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Breast cancer | 20409316 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 21509527 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:16685200-16695400 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
2 | chr17:16689000-16697600 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
3 | chr17:16689600-16711600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
4 | chr17:16690000-16706000 | Weak transcription | Primary T cells fromperipheralblood | blood |
5 | chr17:16690400-16696000 | Weak transcription | Brain Anterior Caudate | brain |
6 | chr17:16691200-16691600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr17:16692800-16693000 | Enhancers | Duodenum Mucosa | Duodenum |
8 | chr17:16693000-16697600 | Weak transcription | Duodenum Mucosa | Duodenum |
9 | chr17:16695400-16695600 | Enhancers | Rectal Mucosa Donor 29 | rectum |
10 | chr17:16697600-16698000 | Enhancers | Primary monocytes fromperipheralblood | blood |
11 | chr17:16697600-16698000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
12 | chr17:16697600-16698000 | Enhancers | Duodenum Mucosa | Duodenum |
13 | chr17:16697600-16698000 | Enhancers | A549 | lung |
14 | chr17:16697600-16698000 | Enhancers | K562 | blood |
15 | chr17:16697800-16698000 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
16 | chr17:16698000-16704200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
17 | chr17:16698000-16710800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
18 | chr17:16698000-16711800 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
19 | chr17:16698800-16705200 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
20 | chr17:16700000-16700200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
21 | chr17:16700200-16708200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
22 | chr17:16708200-16708600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
23 | chr17:16708200-16708600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
24 | chr17:16708200-16708600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
25 | chr17:16711600-16711800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
26 | chr17:16716600-16723200 | Weak transcription | Right Atrium | heart |
27 | chr17:16717200-16720000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
28 | chr17:16717400-16717600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
29 | chr17:16717400-16717800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
30 | chr17:16717600-16717800 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
31 | chr17:16717600-16718000 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
32 | chr17:16717600-16718200 | Bivalent Enhancer | Fetal Muscle Leg | muscle |
33 | chr17:16717600-16718200 | Enhancers | Right Ventricle | heart |
34 | chr17:16717600-16718200 | Enhancers | Skeletal Muscle Female | skeletal muscle |
35 | chr17:16717800-16719000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
36 | chr17:16718000-16719000 | Bivalent Enhancer | Skeletal Muscle Male | skeletal muscle |
37 | chr17:16718000-16719000 | ZNF genes & repeats | Spleen | Spleen |
38 | chr17:16718600-16719200 | Enhancers | A549 | lung |
39 | chr17:16718600-16720600 | Weak transcription | Placenta Amnion | Placenta Amnion |