Variant report
Variant | nsv9511 |
---|---|
Chromosome Location | chr17:20679832-20688799 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:97)
- CpG islands (count:549)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- 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 | CTCF | chr17:20682885-20683105 | H1-hESC | embryonic stem cell: | n/a | n/a |
2 | CTCF | chr17:20683100-20683250 | NHEK | skin: | n/a | n/a |
3 | CTCF | chr17:20685497-20685535 | GM10266 | blood: | n/a | n/a |
4 | CTCF | chr17:20682952-20683057 | Gliobla | brain: | n/a | n/a |
5 | CTCF | chr17:20688552-20688651 | GM20000 | blood: | n/a | n/a |
6 | CTCF | chr17:20682924-20683099 | MCF-7 | breast: | n/a | n/a |
7 | CTCF | chr17:20682982-20683053 | HepG2 | liver: | n/a | n/a |
8 | CTCF | chr17:20682923-20683126 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | CTCF | chr17:20682928-20683064 | MCF-7 | breast: | n/a | n/a |
10 | CTCF | chr17:20682880-20683030 | HCT-116 | colon: | n/a | n/a |
11 | CTCF | chr17:20682965-20683039 | GM12891 | blood: | n/a | n/a |
12 | CTCF | chr17:20682962-20683061 | Hela-S3 | cervix: | n/a | n/a |
13 | CTCF | chr17:20682959-20683051 | K562 | blood: | n/a | n/a |
14 | CTCF | chr17:20682935-20683060 | NHEK | skin: | n/a | n/a |
15 | CTCF | chr17:20685491-20685494 | GM10266 | blood: | n/a | n/a |
16 | CTCF | chr17:20683080-20683230 | MCF-7 | breast: | n/a | n/a |
17 | CTCF | chr17:20682920-20683150 | HCT-116 | colon: | n/a | n/a |
18 | CTCF | chr17:20682925-20683108 | MCF-7 | breast: | n/a | n/a |
19 | CTCF | chr17:20682918-20683105 | MCF-7 | breast: | n/a | n/a |
20 | CTCF | chr17:20682928-20683099 | MCF-7 | breast: | n/a | n/a |
21 | EBF1 | chr17:20687423-20687724 | GM12878 | blood: | n/a | n/a |
22 | EBF1 | chr17:20687368-20687821 | GM12878 | blood: | n/a | n/a |
23 | FOSL2 | chr17:20687398-20687801 | HepG2 | liver: | n/a | n/a |
24 | HEY1 | chr17:20688685-20688908 | HepG2 | liver: | n/a | n/a |
25 | HEY1 | chr17:20688336-20688584 | HepG2 | liver: | n/a | n/a |
26 | HEY1 | chr17:20687368-20687940 | HepG2 | liver: | n/a | n/a |
27 | HEY1 | chr17:20687519-20687734 | HepG2 | liver: | n/a | n/a |
28 | HEY1 | chr17:20687397-20687752 | K562 | blood: | n/a | n/a |
29 | MAFF | chr17:20684613-20684937 | HepG2 | liver: | n/a | n/a |
30 | MAFF | chr17:20684721-20684913 | K562 | blood: | n/a | n/a |
31 | MAFK | chr17:20684732-20684860 | Hela-S3 | cervix: | n/a | chr17:20684767-20684782 chr17:20684772-20684783 chr17:20684772-20684783 chr17:20684770-20684784 |
32 | MAFK | chr17:20684594-20684949 | HepG2 | liver: | n/a | chr17:20684767-20684782 chr17:20684772-20684783 chr17:20684772-20684783 chr17:20684770-20684784 |
33 | MAFK | chr17:20684622-20684921 | HepG2 | liver: | n/a | chr17:20684767-20684782 chr17:20684772-20684783 chr17:20684772-20684783 chr17:20684770-20684784 |
34 | MAFK | chr17:20684612-20684950 | IMR90 | lung: | n/a | chr17:20684767-20684782 chr17:20684772-20684783 chr17:20684772-20684783 chr17:20684770-20684784 |
35 | MAFK | chr17:20688467-20688501 | HepG2 | liver: | n/a | n/a |
36 | MAFK | chr17:20684680-20684880 | H1-hESC | embryonic stem cell: | n/a | chr17:20684767-20684782 chr17:20684772-20684783 chr17:20684772-20684783 chr17:20684770-20684784 |
37 | MYC | chr17:20687491-20687496 | MCF-7 | breast: | n/a | n/a |
38 | MYC | chr17:20687518-20687644 | MCF-7 | breast: | n/a | n/a |
39 | MYC | chr17:20687544-20687766 | MCF-7 | breast: | n/a | n/a |
40 | MYC | chr17:20687585-20687655 | MCF-7 | breast: | n/a | n/a |
41 | POLR2A | chr17:20687360-20687919 | MCF-7 | breast: | n/a | n/a |
42 | POLR2A | chr17:20687524-20687659 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | POLR2A | chr17:20681514-20681534 | MCF10A-Er-Src | breast: | n/a | n/a |
44 | POLR2A | chr17:20685102-20685122 | MCF-7 | breast: | n/a | n/a |
45 | POLR2A | chr17:20688435-20688461 | HepG2 | liver: | n/a | n/a |
46 | POLR2A | chr17:20687421-20687721 | Hela-S3 | cervix: | n/a | n/a |
47 | POLR2A | chr17:20687901-20687906 | Hela-S3 | cervix: | n/a | n/a |
48 | POLR2A | chr17:20687690-20687773 | A549 | lung: | n/a | n/a |
49 | POLR2A | chr17:20688657-20689088 | HepG2 | liver: | n/a | n/a |
50 | POLR2A | chr17:20687459-20687832 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20687681-20687731 | HCM | heart: | n/a |
2 | chr17:20687912-20687962 | SAEC | small airway: | n/a |
3 | chr17:20687698-20687748 | HCM | heart: | n/a |
4 | chr17:20687481-20687531 | Jurkat | blood: | n/a |
5 | chr17:20687698-20687748 | MCF10A-Er-Src | breast: | n/a |
6 | chr17:20687912-20687962 | RPTEC | kidney: | n/a |
7 | chr17:20687681-20687731 | ECC-1 | luminal epithelium: | n/a |
8 | chr17:20688522-20688572 | HRE | kidney: | n/a |
9 | chr17:20688701-20688751 | AG09319 | gingival: | n/a |
10 | chr17:20688522-20688572 | GM12878 | blood: | n/a |
11 | chr17:20688522-20688572 | NB4 | blood: | n/a |
12 | chr17:20687681-20687731 | NHBE | bronchial: | n/a |
13 | chr17:20688701-20688751 | SK-N-SH | brain: | n/a |
14 | chr17:20687681-20687731 | Caco-2 | colon: | n/a |
15 | chr17:20687912-20687962 | HCM | heart: | n/a |
16 | chr17:20687681-20687731 | Hepatocyte | liver: | n/a |
17 | chr17:20687912-20687962 | HCT-116 | colon: | n/a |
18 | chr17:20683924-20683974 | AG04449 | skin: | fetal |
19 | chr17:20687912-20687962 | HRE | kidney: | n/a |
20 | chr17:20687761-20687811 | NHBE | bronchial: | n/a |
21 | chr17:20687698-20687748 | SAEC | small airway: | n/a |
22 | chr17:20687912-20687962 | GM06990 | blood: | n/a |
23 | chr17:20688701-20688751 | HNPCEpiC | eye: | n/a |
24 | chr17:20687761-20687811 | NH-A | brain: | n/a |
25 | chr17:20687481-20687531 | HNPCEpiC | eye: | n/a |
26 | chr17:20688701-20688751 | HEEpiC | esophagus: | n/a |
27 | chr17:20688522-20688572 | SKMC | muscle: | n/a |
28 | chr17:20687698-20687748 | U87 | brain: | n/a |
29 | chr17:20683924-20683974 | AG09319 | gingival: | n/a |
30 | chr17:20687698-20687748 | BJ | skin: | n/a |
31 | chr17:20688483-20688533 | GM12891 | blood: | n/a |
32 | chr17:20687912-20687962 | MCF-7 | breast: | n/a |
33 | chr17:20683924-20683974 | PrEC | prostate: | n/a |
34 | chr17:20688522-20688572 | HRPEpiC | eye: | n/a |
35 | chr17:20688701-20688751 | PrEC | prostate: | n/a |
36 | chr17:20688522-20688572 | ovcar-3 | ovarian: | n/a |
37 | chr17:20687912-20687962 | NT2-D1 | testis: | n/a |
38 | chr17:20687761-20687811 | PANC-1 | pancreas: | n/a |
39 | chr17:20687481-20687531 | HCM | heart: | n/a |
40 | chr17:20687681-20687731 | U87 | brain: | n/a |
41 | chr17:20687912-20687962 | HAEpiC | amniotic membrane: | n/a |
42 | chr17:20683924-20683974 | LNCaP | prostate: | n/a |
43 | chr17:20688522-20688572 | AG04450 | lung: | fetal |
44 | chr17:20683924-20683974 | HRCEpiC | kidney: | n/a |
45 | chr17:20688701-20688751 | HRCEpiC | kidney: | n/a |
46 | chr17:20687481-20687531 | CMK | blood: | n/a |
47 | chr17:20687912-20687962 | ovcar-3 | ovarian: | n/a |
48 | chr17:20688701-20688751 | LNCaP | prostate: | n/a |
49 | chr17:20687481-20687531 | ovcar-3 | ovarian: | n/a |
50 | chr17:20687681-20687731 | AG10803 | skin: | n/a |
No data |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CDRT15L2-5 | chr17:20678955-20680218 | NONHSAT146832 |
No data |
No data |
Variant related genes | Relation type |
---|---|
SCDP1 | TF binding region |
ENSG00000264215 | TF binding region |
SCDP1 | CpG island |
ENSG00000264215 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs561558536 | chr17:20679834-20679835 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs528651276 | chr17:20679918-20679919 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs112308769 | chr17:20679971-20679972 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs571566323 | chr17:20680121-20680122 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs372469117 | chr17:20680204-20680205 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs539050083 | chr17:20680210-20680211 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs111615294 | chr17:20680269-20680270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs113301832 | chr17:20680292-20680293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs551008608 | chr17:20680310-20680311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs569538155 | chr17:20680322-20680323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs142679419 | chr17:20680331-20680332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs555145850 | chr17:20680335-20680336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs565109777 | chr17:20680341-20680342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs534771626 | chr17:20680357-20680358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs553308359 | chr17:20680358-20680359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs114420217 | chr17:20680421-20680422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs545313632 | chr17:20680441-20680442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs557359926 | chr17:20680463-20680464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs554169958 | chr17:20680469-20680470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs543130519 | chr17:20680470-20680471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs561189947 | chr17:20680475-20680476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs528668977 | chr17:20680517-20680518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs76699739 | chr17:20680577-20680578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs565134130 | chr17:20680586-20680587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532704363 | chr17:20680648-20680649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs532436463 | chr17:20680655-20680656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs115515941 | chr17:20680665-20680666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs370055201 | chr17:20680687-20680688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs80323561 | chr17:20680743-20680744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs186943081 | chr17:20680763-20680764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs74808600 | chr17:20680783-20680784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs567205229 | chr17:20680835-20680836 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs8082402 | chr17:20680860-20680861 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs139108611 | chr17:20680877-20680878 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs191532600 | chr17:20680915-20680916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs538963710 | chr17:20680916-20680917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs35771888 | chr17:20680921-20680922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs8068654 | chr17:20680949-20680950 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs546376289 | chr17:20680952-20680953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs542614082 | chr17:20680953-20680954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs547758470 | chr17:20680982-20680983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs148792151 | chr17:20681019-20681020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs532074165 | chr17:20681028-20681029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs183686603 | chr17:20681054-20681055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs540320471 | chr17:20681074-20681075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs199904716 | chr17:20681131-20681132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs8064923 | chr17:20681137-20681138 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs527683905 | chr17:20681154-20681155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs532543260 | chr17:20681160-20681161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs544909895 | chr17:20681163-20681164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | 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 |
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 |
Breast cancer | 17142309 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:20665400-20687200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr17:20679200-20682000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
3 | chr17:20681600-20684000 | Enhancers | Primary monocytes fromperipheralblood | blood |
4 | chr17:20681800-20682800 | Enhancers | Primary B cells from peripheral blood | blood |
5 | chr17:20682000-20682200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
6 | chr17:20682200-20683400 | Enhancers | Monocytes-CD14+_RO01746 | blood |
7 | chr17:20682200-20687600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
8 | chr17:20682600-20682800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
9 | chr17:20683400-20684000 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
10 | chr17:20683800-20684000 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
11 | chr17:20684000-20684200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
12 | chr17:20687200-20687800 | Strong transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
13 | chr17:20687200-20688000 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
14 | chr17:20687400-20687600 | Bivalent Enhancer | Primary hematopoietic stem cells short term culture | blood |
15 | chr17:20687400-20687600 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
16 | chr17:20687400-20687600 | Bivalent/Poised TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
17 | chr17:20687400-20687600 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin03 | Skin |
18 | chr17:20687400-20687600 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
19 | chr17:20687400-20687600 | Bivalent Enhancer | Fetal Stomach | stomach |
20 | chr17:20687400-20687600 | Bivalent Enhancer | Skeletal Muscle Female | skeletal muscle |
21 | chr17:20687400-20688000 | Bivalent Enhancer | Adipose Nuclei | Adipose |
22 | chr17:20687600-20687800 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
23 | chr17:20687600-20687800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
24 | chr17:20687600-20687800 | Flanking Bivalent TSS/Enh | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
25 | chr17:20687600-20687800 | Flanking Bivalent TSS/Enh | Foreskin Keratinocyte Primary Cells skin03 | Skin |
26 | chr17:20687600-20687800 | Flanking Bivalent TSS/Enh | Fetal Muscle Trunk | muscle |
27 | chr17:20687600-20687800 | Bivalent/Poised TSS | Fetal Stomach | stomach |
28 | chr17:20687600-20687800 | Active TSS | HSMM | muscle |
29 | chr17:20687600-20688000 | Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
30 | chr17:20687600-20688000 | Flanking Bivalent TSS/Enh | Foreskin Keratinocyte Primary Cells skin02 | Skin |
31 | chr17:20687600-20688000 | Flanking Bivalent TSS/Enh | Foreskin Melanocyte Primary Cells skin03 | Skin |
32 | chr17:20687600-20688000 | Bivalent/Poised TSS | Fetal Brain Female | brain |
33 | chr17:20687800-20688000 | Bivalent/Poised TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
34 | chr17:20687800-20688000 | Bivalent/Poised TSS | Primary hematopoietic stem cells short term culture | blood |
35 | chr17:20687800-20688000 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
36 | chr17:20687800-20688000 | Bivalent/Poised TSS | HSMM | muscle |
37 | chr17:20687800-20705000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
38 | chr17:20688000-20688400 | Bivalent/Poised TSS | HUVEC | blood vessel |