Variant report
Variant | nsv978388 |
---|---|
Chromosome Location | chr17:20225783-20279044 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:66)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:14)
- 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 | chr17:20248455-20248916 | GM12878 | blood: | n/a | n/a |
2 | BATF | chr17:20243234-20243495 | GM12878 | blood: | n/a | n/a |
3 | BATF | chr17:20255920-20256169 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr17:20268484-20268863 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr17:20268534-20268812 | GM12878 | blood: | n/a | n/a |
6 | BCL11A | chr17:20243128-20243463 | GM12878 | blood: | n/a | n/a |
7 | BCL11A | chr17:20268605-20268835 | GM12878 | blood: | n/a | n/a |
8 | CEBPB | chr17:20243142-20243450 | K562 | blood: | n/a | n/a |
9 | CEBPB | chr17:20243727-20243984 | K562 | blood: | n/a | chr17:20243922-20243935 |
10 | CEBPB | chr17:20243203-20243389 | K562 | blood: | n/a | n/a |
11 | CEBPB | chr17:20243697-20243977 | K562 | blood: | n/a | chr17:20243922-20243935 |
12 | CTCF | chr17:20255642-20255659 | GM13976 | blood: | n/a | n/a |
13 | CTCF | chr17:20273292-20273358 | GM13976 | blood: | n/a | n/a |
14 | CTCF | chr17:20264463-20264540 | Medullo | brain: | n/a | n/a |
15 | CTCF | chr17:20240678-20240742 | Lung_OC | lung: | n/a | n/a |
16 | CTCF | chr17:20278328-20278343 | GM10266 | blood: | n/a | n/a |
17 | CTCF | chr17:20278353-20278398 | GM10266 | blood: | n/a | n/a |
18 | CTCF | chr17:20248042-20248127 | Lung_OC | lung: | n/a | n/a |
19 | CTCF | chr17:20236940-20237090 | GM12864 | blood: | n/a | n/a |
20 | FOXA1 | chr17:20236887-20237182 | HepG2 | liver: | n/a | n/a |
21 | FOXA1 | chr17:20239343-20239592 | HepG2 | liver: | n/a | n/a |
22 | FOXA1 | chr17:20237823-20238157 | HepG2 | liver: | n/a | n/a |
23 | GABPA | chr17:20234781-20234974 | Hela-S3 | cervix: | n/a | n/a |
24 | GATA2 | chr17:20248649-20248939 | K562 | blood: | n/a | n/a |
25 | GATA2 | chr17:20243147-20243362 | K562 | blood: | n/a | n/a |
26 | IRF4 | chr17:20243059-20243359 | GM12878 | blood: | n/a | n/a |
27 | IRF4 | chr17:20268549-20268890 | GM12878 | blood: | n/a | n/a |
28 | IRF4 | chr17:20268556-20268862 | GM12878 | blood: | n/a | n/a |
29 | MAFF | chr17:20245105-20245114 | K562 | blood: | n/a | n/a |
30 | MAFF | chr17:20244790-20244975 | HepG2 | liver: | n/a | n/a |
31 | MAFK | chr17:20244789-20244883 | HepG2 | liver: | n/a | chr17:20244794-20244809 chr17:20244812-20244821 chr17:20244810-20244825 |
32 | MAFK | chr17:20244721-20245088 | IMR90 | lung: | n/a | chr17:20244794-20244809 chr17:20244812-20244821 chr17:20245040-20245051 chr17:20244810-20244825 |
33 | MAFK | chr17:20244726-20245126 | HepG2 | liver: | n/a | chr17:20244794-20244809 chr17:20244812-20244821 chr17:20245040-20245051 chr17:20244810-20244825 |
34 | PAX5 | chr17:20268513-20268996 | GM12878 | blood: | n/a | n/a |
35 | PBX3 | chr17:20278541-20278687 | GM12878 | blood: | n/a | chr17:20278619-20278628 |
36 | PBX3 | chr17:20278532-20278692 | GM12878 | blood: | n/a | chr17:20278619-20278628 |
37 | POLR2A | chr17:20278274-20278717 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | POLR2A | chr17:20228239-20228409 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | POLR2A | chr17:20229953-20230075 | H1-hESC | embryonic stem cell: | n/a | n/a |
40 | POLR2A | chr17:20230582-20230598 | A549 | lung: | n/a | n/a |
41 | POLR2A | chr17:20274675-20274821 | A549 | lung: | n/a | n/a |
42 | POLR2A | chr17:20226592-20226799 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | POLR2A | chr17:20278866-20279388 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | POLR2A | chr17:20261723-20261922 | A549 | lung: | n/a | n/a |
45 | POLR2A | chr17:20229871-20230060 | H1-hESC | embryonic stem cell: | n/a | n/a |
46 | POLR2A | chr17:20226273-20226491 | H1-hESC | embryonic stem cell: | n/a | n/a |
47 | POLR2A | chr17:20231324-20231500 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | POLR2A | chr17:20278871-20279556 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | POLR2A | chr17:20278908-20279504 | H1-hESC | embryonic stem cell: | n/a | n/a |
50 | POLR2A | chr17:20278974-20279326 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20228619-20228669 | NB4 | blood: | n/a |
2 | chr17:20228619-20228669 | HRCEpiC | kidney: | n/a |
3 | chr17:20228619-20228669 | AG09319 | gingival: | n/a |
4 | chr17:20228619-20228669 | HCM | heart: | n/a |
5 | chr17:20228619-20228669 | HIPEpiC | eye: | n/a |
6 | chr17:20228619-20228669 | A549 | lung: | n/a |
7 | chr17:20228619-20228669 | GM19239 | blood: | n/a |
8 | chr17:20228619-20228669 | HPAEpiC | pulmonary alveolar: | n/a |
9 | chr17:20228619-20228669 | HAEpiC | amniotic membrane: | n/a |
10 | chr17:20228619-20228669 | NH-A | brain: | n/a |
11 | chr17:20228619-20228669 | NT2-D1 | testis: | n/a |
12 | chr17:20228619-20228669 | HNPCEpiC | eye: | n/a |
13 | chr17:20228619-20228669 | MCF10A-Er-Src | breast: | n/a |
14 | chr17:20228619-20228669 | K562 | blood: | n/a |
15 | chr17:20228619-20228669 | GM12891 | blood: | n/a |
16 | chr17:20228619-20228669 | PANC-1 | pancreas: | n/a |
17 | chr17:20228619-20228669 | ProgFib | skin: | n/a |
18 | chr17:20228619-20228669 | NHBE | bronchial: | n/a |
19 | chr17:20228619-20228669 | HCT-116 | colon: | n/a |
20 | chr17:20228619-20228669 | AG04449 | skin: | fetal |
21 | chr17:20228619-20228669 | HepG2 | liver: | n/a |
22 | chr17:20228619-20228669 | ovcar-3 | ovarian: | n/a |
23 | chr17:20228619-20228669 | HEEpiC | esophagus: | n/a |
24 | chr17:20228619-20228669 | H1-hESC | embryonic stem cell: | embryo |
25 | chr17:20228619-20228669 | LNCaP | prostate: | n/a |
26 | chr17:20228619-20228669 | HCPEpiC | choroid plexus: | n/a |
27 | chr17:20228619-20228669 | HRE | kidney: | n/a |
28 | chr17:20228619-20228669 | HMEC | breast: | n/a |
29 | chr17:20228619-20228669 | PFSK-1 | brain: | n/a |
30 | chr17:20228619-20228669 | AG09309 | skin: | n/a |
31 | chr17:20228619-20228669 | Jurkat | blood: | n/a |
32 | chr17:20228619-20228669 | Hepatocyte | liver: | n/a |
33 | chr17:20228619-20228669 | GM12892 | blood: | n/a |
34 | chr17:20228619-20228669 | GM06990 | blood: | n/a |
35 | chr17:20228619-20228669 | MCF-7 | breast: | n/a |
36 | chr17:20228619-20228669 | AoSMC | blood vessel: | n/a |
37 | chr17:20228619-20228669 | SK-N-SH_RA | brain: | n/a |
38 | chr17:20228619-20228669 | HUVEC | blood vessel: | n/a |
39 | chr17:20228619-20228669 | SK-N-SH | brain: | n/a |
40 | chr17:20228619-20228669 | CMK | blood: | n/a |
41 | chr17:20228619-20228669 | SK-N-MC | brain: | n/a |
42 | chr17:20228619-20228669 | RPTEC | kidney: | n/a |
43 | chr17:20228619-20228669 | U87 | brain: | n/a |
44 | chr17:20228619-20228669 | SAEC | small airway: | n/a |
45 | chr17:20228619-20228669 | SKMC | muscle: | n/a |
46 | chr17:20228619-20228669 | HEK293 | kidney: | embryo |
47 | chr17:20228619-20228669 | HCF | heart: | n/a |
48 | chr17:20228619-20228669 | IMR90 | lung: | fetal |
49 | chr17:20228619-20228669 | Hela-S3 | cervix: | n/a |
50 | chr17:20228619-20228669 | Caco-2 | colon: | n/a |
No data |
(count:14 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CCDC144C-1 | chr17:20242793-20243632 | NR_023380 |
2 | lnc-CCDC144C-1 | chr17:20241470-20241543 | NR_023380 |
3 | lnc-CCDC144C-1 | chr17:20254251-20254284 | NR_023380 |
4 | lnc-CCDC144C-1 | chr17:20245671-20245807 | NR_023380 |
5 | lnc-SPECC1-1 | chr17:20226197-20226286 | ENSG00000263494.1 |
6 | lnc-CCDC144C-1 | chr17:20254570-20254711 | NR_023380 |
7 | lnc-SPECC1-2 | chr17:20226371-20226650 | ENSG00000266839.1 |
8 | lnc-CCDC144C-1 | chr17:20261192-20261409 | NR_023380 |
9 | lnc-CCDC144C-1 | chr17:20265497-20265680 | NR_023380 |
10 | lnc-CCDC144C-1 | chr17:20268399-20269343 | NR_023380 |
11 | lnc-CCDC144C-1 | chr17:20266235-20266363 | NR_023380 |
12 | lnc-SPECC1-3 | chr17:20244056-20244356 | NONHSAT146561 |
13 | lnc-CCDC144C-1 | chr17:20227496-20227566 | NR_023380 |
14 | lnc-CCDC144C-1 | chr17:20239145-20239393 | NR_023380 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SL17P | TF binding region |
CCDC144CP | TF binding region |
ENSG00000266839 | TF binding region |
RN7SL17P | CpG island |
CCDC144CP | CpG island |
ENSG00000266839 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs558009489 | chr17:20225798-20225799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs574762163 | chr17:20225808-20225809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs542166834 | chr17:20225848-20225849 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs187219497 | chr17:20225860-20225861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs569947050 | chr17:20225862-20225863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs552344788 | chr17:20225899-20225900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs564603164 | chr17:20225902-20225903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs112292717 | chr17:20225912-20225913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs549291616 | chr17:20225960-20225961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs568346947 | chr17:20226016-20226017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs535721869 | chr17:20226019-20226020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs547702173 | chr17:20226023-20226024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs566306327 | chr17:20226028-20226029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs62066882 | chr17:20226054-20226055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs533777908 | chr17:20226066-20226067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs558306431 | chr17:20226091-20226092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs565989526 | chr17:20226117-20226118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs183198956 | chr17:20226165-20226166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs558174159 | chr17:20226194-20226195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs537967771 | chr17:20226258-20226259 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs556365522 | chr17:20226262-20226263 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs187493210 | chr17:20226269-20226270 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs542103549 | chr17:20226280-20226281 | Weak transcription | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs554113339 | chr17:20226290-20226291 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs572297583 | chr17:20226293-20226294 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs546169689 | chr17:20226330-20226331 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs564357668 | chr17:20226345-20226346 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs113468216 | chr17:20226349-20226350 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs543533931 | chr17:20226354-20226355 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs201555051 | chr17:20226491-20226492 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs112456961 | chr17:20226497-20226498 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs561914038 | chr17:20226506-20226507 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs529457559 | chr17:20226539-20226540 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs375829132 | chr17:20226644-20226645 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs537041774 | chr17:20226653-20226654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs547630760 | chr17:20226733-20226734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs199523669 | chr17:20227050-20227051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs566351127 | chr17:20227053-20227054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs28696294 | chr17:20227092-20227093 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs552125422 | chr17:20227161-20227162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs570374245 | chr17:20227198-20227199 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs537906534 | chr17:20227205-20227206 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs556302071 | chr17:20227262-20227263 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs568212736 | chr17:20227287-20227288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs535643715 | chr17:20227349-20227350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs201529404 | chr17:20227377-20227378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs199982169 | chr17:20227378-20227379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs200821615 | chr17:20227380-20227381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs553726143 | chr17:20227386-20227387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs572289679 | chr17:20227406-20227407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Chronic lymphocytic leukemia | 21546498 | 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 |
Acute promyelocytic leukemia | 19109227 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 |
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 |
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 |
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 |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Cancer | 17440070 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:20213000-20226600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
2 | chr17:20219400-20229200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr17:20224600-20241200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
4 | chr17:20231000-20231400 | Enhancers | Rectal Smooth Muscle | rectum |
5 | chr17:20236200-20244800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
6 | chr17:20254400-20268200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
7 | chr17:20255800-20256200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
8 | chr17:20266000-20268800 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
9 | chr17:20267000-20267600 | Enhancers | Primary monocytes fromperipheralblood | blood |
10 | chr17:20268600-20269200 | Enhancers | Brain Substantia Nigra | brain |
11 | chr17:20274000-20274200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
12 | chr17:20274600-20275000 | Enhancers | Primary monocytes fromperipheralblood | blood |
13 | chr17:20274800-20275000 | Enhancers | Monocytes-CD14+_RO01746 | blood |
14 | chr17:20275400-20280000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |