Variant report
Variant | nsv978373 |
---|---|
Chromosome Location | chr17:16594279-16649044 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:67)
- CpG islands (count:305)
- Chromatin interactive region (count:0)
- LncRNA region (count:6)
- 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 | BATF | chr17:16638159-16638457 | GM12878 | blood: | n/a | n/a |
2 | BATF | chr17:16617967-16618171 | GM12878 | blood: | n/a | n/a |
3 | BATF | chr17:16648342-16648531 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr17:16625165-16625430 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr17:16638089-16638468 | GM12878 | blood: | n/a | n/a |
6 | BATF | chr17:16612551-16612747 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr17:16617753-16618210 | GM12878 | blood: | n/a | n/a |
8 | BCL11A | chr17:16638200-16638440 | GM12878 | blood: | n/a | n/a |
9 | BCL11A | chr17:16617949-16618181 | GM12878 | blood: | n/a | n/a |
10 | CEBPB | chr17:16613014-16613307 | K562 | blood: | n/a | n/a |
11 | CEBPB | chr17:16612522-16612646 | K562 | blood: | n/a | n/a |
12 | CEBPB | chr17:16613038-16613211 | K562 | blood: | n/a | n/a |
13 | CTCF | chr17:16619739-16619813 | Pancreas_OC | pancreas: | n/a | n/a |
14 | CTCF | chr17:16594722-16594777 | Medullo | brain: | n/a | n/a |
15 | CTCF | chr17:16624670-16624729 | Lung_OC | lung: | n/a | n/a |
16 | CTCF | chr17:16602903-16603024 | Medullo | brain: | n/a | chr17:16603015-16603022 |
17 | CTCF | chr17:16608582-16608706 | Medullo | brain: | n/a | n/a |
18 | CTCF | chr17:16629123-16629173 | LNCaP | prostate: | n/a | n/a |
19 | CTCF | chr17:16608722-16608774 | GM13976 | blood: | n/a | n/a |
20 | CTCF | chr17:16626080-16626133 | GM10248 | blood: | n/a | n/a |
21 | CTCF | chr17:16632930-16632972 | Fibrobl | skin: | n/a | n/a |
22 | CTCF | chr17:16619001-16619056 | GM10248 | blood: | n/a | n/a |
23 | CTCF | chr17:16601746-16601855 | GM13976 | blood: | n/a | n/a |
24 | CTCF | chr17:16609758-16609781 | GM10266 | blood: | n/a | n/a |
25 | CTCF | chr17:16629754-16629843 | Spleen_OC | spleen: | n/a | n/a |
26 | CTCF | chr17:16606220-16606347 | Medullo | brain: | n/a | n/a |
27 | EP300 | chr17:16638093-16638422 | GM12878 | blood: | n/a | n/a |
28 | EP300 | chr17:16603603-16603886 | GM12878 | blood: | n/a | n/a |
29 | FOSL2 | chr17:16648791-16649097 | HepG2 | liver: | n/a | n/a |
30 | FOXA1 | chr17:16606495-16606829 | HepG2 | liver: | n/a | n/a |
31 | FOXA1 | chr17:16608663-16608912 | HepG2 | liver: | n/a | n/a |
32 | GATA2 | chr17:16617972-16618233 | K562 | blood: | n/a | n/a |
33 | IRF4 | chr17:16638020-16638518 | GM12878 | blood: | n/a | n/a |
34 | IRF4 | chr17:16638061-16638467 | GM12878 | blood: | n/a | n/a |
35 | PAX5 | chr17:16638118-16638620 | GM12878 | blood: | n/a | n/a |
36 | PBX3 | chr17:16648458-16648617 | GM12878 | blood: | n/a | chr17:16648544-16648553 |
37 | PBX3 | chr17:16648464-16648612 | GM12878 | blood: | n/a | chr17:16648544-16648553 |
38 | POLR2A | chr17:16648827-16649429 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | POLR2A | chr17:16631420-16631472 | A549 | lung: | n/a | n/a |
40 | POLR2A | chr17:16648211-16648642 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | POLR2A | chr17:16598670-16598833 | H1-hESC | embryonic stem cell: | n/a | n/a |
42 | POLR2A | chr17:16605441-16606029 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | POLR2A | chr17:16597554-16597728 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | POLR2A | chr17:16648796-16649481 | H1-hESC | embryonic stem cell: | n/a | n/a |
45 | POLR2A | chr17:16597040-16597210 | H1-hESC | embryonic stem cell: | n/a | n/a |
46 | POLR2A | chr17:16648791-16649489 | H1-hESC | embryonic stem cell: | n/a | n/a |
47 | POLR2A | chr17:16648865-16649382 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | POLR2A | chr17:16595095-16595289 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | POLR2A | chr17:16644605-16644800 | A549 | lung: | n/a | n/a |
50 | POLR2A | chr17:16632932-16633054 | Gliobla | brain: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:16594459-16594509 | PANC-1 | pancreas: | n/a |
2 | chr17:16597563-16597613 | HEK293 | kidney: | embryo |
3 | chr17:16610132-16610182 | AG04450 | lung: | fetal |
4 | chr17:16594459-16594509 | ProgFib | skin: | n/a |
5 | chr17:16610132-16610182 | HRPEpiC | eye: | n/a |
6 | chr17:16610132-16610182 | HRE | kidney: | n/a |
7 | chr17:16610318-16610368 | HMEC | breast: | n/a |
8 | chr17:16594459-16594509 | HPAEpiC | pulmonary alveolar: | n/a |
9 | chr17:16610318-16610368 | K562 | blood: | n/a |
10 | chr17:16610132-16610182 | ECC-1 | luminal epithelium: | n/a |
11 | chr17:16610132-16610182 | U87 | brain: | n/a |
12 | chr17:16594459-16594509 | IMR90 | lung: | fetal |
13 | chr17:16610132-16610182 | IMR90 | lung: | fetal |
14 | chr17:16610318-16610368 | PrEC | prostate: | n/a |
15 | chr17:16594459-16594509 | AG09309 | skin: | n/a |
16 | chr17:16610132-16610182 | PFSK-1 | brain: | n/a |
17 | chr17:16614065-16614115 | BE2_C | brain: | n/a |
18 | chr17:16594459-16594509 | HAEpiC | amniotic membrane: | n/a |
19 | chr17:16597563-16597613 | HIPEpiC | eye: | n/a |
20 | chr17:16610318-16610368 | GM12878 | blood: | n/a |
21 | chr17:16610318-16610368 | PFSK-1 | brain: | n/a |
22 | chr17:16614065-16614115 | CMK | blood: | n/a |
23 | chr17:16594459-16594509 | ECC-1 | luminal epithelium: | n/a |
24 | chr17:16594459-16594509 | Caco-2 | colon: | n/a |
25 | chr17:16614065-16614115 | NT2-D1 | testis: | n/a |
26 | chr17:16614065-16614115 | HRCEpiC | kidney: | n/a |
27 | chr17:16597563-16597613 | PFSK-1 | brain: | n/a |
28 | chr17:16597563-16597613 | GM12892 | blood: | n/a |
29 | chr17:16597563-16597613 | HL-60 | blood: | n/a |
30 | chr17:16610318-16610368 | ovcar-3 | ovarian: | n/a |
31 | chr17:16610318-16610368 | AG09309 | skin: | n/a |
32 | chr17:16614065-16614115 | ECC-1 | luminal epithelium: | n/a |
33 | chr17:16614065-16614115 | GM12892 | blood: | n/a |
34 | chr17:16597563-16597613 | Hela-S3 | cervix: | n/a |
35 | chr17:16597563-16597613 | IMR90 | lung: | fetal |
36 | chr17:16610132-16610182 | T-47D | breast: | n/a |
37 | chr17:16594459-16594509 | NH-A | brain: | n/a |
38 | chr17:16594459-16594509 | Hela-S3 | cervix: | n/a |
39 | chr17:16610318-16610368 | CMK | blood: | n/a |
40 | chr17:16614065-16614115 | Caco-2 | colon: | n/a |
41 | chr17:16610132-16610182 | Hela-S3 | cervix: | n/a |
42 | chr17:16597563-16597613 | PANC-1 | pancreas: | n/a |
43 | chr17:16594459-16594509 | AG04449 | skin: | fetal |
44 | chr17:16597563-16597613 | HEEpiC | esophagus: | n/a |
45 | chr17:16610132-16610182 | PrEC | prostate: | n/a |
46 | chr17:16614065-16614115 | HRE | kidney: | n/a |
47 | chr17:16610318-16610368 | HIPEpiC | eye: | n/a |
48 | chr17:16610132-16610182 | SAEC | small airway: | n/a |
49 | chr17:16610318-16610368 | MCF10A-Er-Src | breast: | n/a |
50 | chr17:16610318-16610368 | HPAEpiC | pulmonary alveolar: | n/a |
No data |
(count:6 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AC104024.2.1-4 | chr17:16630841-16631209 | NONHSAT145996 |
2 | lnc-AC104024.2.1-4 | chr17:16623831-16623972 | NONHSAT145996 |
3 | lnc-TRPV2-7 | chr17:16613373-16613673 | NONHSAT145995 |
4 | lnc-AC104024.2.1-4 | chr17:16630374-16630453 | NONHSAT145996 |
5 | lnc-TRPV2-6 | chr17:16612110-16612773 | NONHSAT145994 |
6 | lnc-TRPV2-6 | chr17:16608598-16608713 | NONHSAT145994 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SL620P | TF binding region |
CCDC144A | TF binding region |
RNU6-405P | TF binding region |
RN7SL620P | CpG island |
CCDC144A | CpG island |
RNU6-405P | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs529797246 | chr17:16594462-16594463 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs531124404 | chr17:16594468-16594469 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs543558154 | chr17:16594499-16594500 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs563444519 | chr17:16594508-16594509 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs377101845 | chr17:16594729-16594730 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs370687022 | chr17:16594745-16594746 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs558931048 | chr17:16594751-16594752 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs541538060 | chr17:16595106-16595107 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs144872381 | chr17:16603614-16603615 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs149113366 | chr17:16603615-16603616 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs547493204 | chr17:16603692-16603693 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs567459733 | chr17:16603724-16603725 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs536443946 | chr17:16603760-16603761 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs556504697 | chr17:16603763-16603764 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs571358509 | chr17:16603784-16603785 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs375612372 | chr17:16605443-16605444 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs184575395 | chr17:16605460-16605461 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs538432163 | chr17:16605469-16605470 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs2928643 | chr17:16605527-16605528 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs574570263 | chr17:16605542-16605543 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs61358985 | chr17:16605548-16605549 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs559051082 | chr17:16605566-16605567 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs563449534 | chr17:16605578-16605579 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs2928642 | chr17:16605600-16605601 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs546018530 | chr17:16605659-16605660 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs559383878 | chr17:16605698-16605699 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs2621622 | chr17:16605891-16605892 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs2621621 | chr17:16605992-16605993 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs188729385 | chr17:16606002-16606003 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs575610659 | chr17:16606012-16606013 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs530108768 | chr17:16606300-16606301 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs374933914 | chr17:16606309-16606310 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs149435276 | chr17:16606337-16606338 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs570195009 | chr17:16606585-16606586 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs532591107 | chr17:16606663-16606664 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs552784046 | chr17:16606730-16606731 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs531081500 | chr17:16608662-16608663 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs551257871 | chr17:16608679-16608680 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs183640618 | chr17:16608844-16608845 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs532758317 | chr17:16608910-16608911 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs528868713 | chr17:16610132-16610133 | Inactive region | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs542304631 | chr17:16610133-16610134 | Inactive region | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs562580522 | chr17:16610172-16610173 | Inactive region | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs531339953 | chr17:16610175-16610176 | Inactive region | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs375706158 | chr17:16610318-16610319 | Inactive region | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs2621615 | chr17:16610319-16610320 | Inactive region | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs2621614 | chr17:16610362-16610363 | Inactive region | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs201792224 | chr17:16612114-16612115 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs376080025 | chr17:16612119-16612120 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs368503677 | chr17:16612133-16612134 | Inactive region | lncRNA | 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 |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:16624000-16624200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
2 | chr17:16624000-16624400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
3 | chr17:16624000-16624400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
4 | chr17:16624000-16624600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
5 | chr17:16624400-16625600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
6 | chr17:16625800-16626000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
7 | chr17:16645000-16645200 | Enhancers | Primary monocytes fromperipheralblood | blood |
8 | chr17:16648200-16648400 | Flanking Bivalent TSS/Enh | iPS-20b Cell Line | embryonic stem cell |
9 | chr17:16648800-16649600 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
10 | chr17:16649000-16649400 | Bivalent/Poised TSS | iPS-20b Cell Line | embryonic stem cell |
11 | chr17:16649000-16649400 | Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr17:16649000-16649400 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
13 | chr17:16649000-16649400 | Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
14 | chr17:16649000-16649600 | Active TSS | H1 Cell Line | embryonic stem cell |
15 | chr17:16649000-16649600 | Active TSS | HUES6 Cell Line | embryonic stem cell |
16 | chr17:16649000-16649600 | Active TSS | iPS-18 Cell Line | embryonic stem cell |
17 | chr17:16649000-16649800 | Active TSS | HUES48 Cell Line | embryonic stem cell |
18 | chr17:16649000-16650000 | Active TSS | H9 Cell Line | embryonic stem cell |
19 | chr17:16649000-16650000 | Bivalent/Poised TSS | HUES64 Cell Line | embryonic stem cell |