Variant report
Variant | nsv962289 |
---|---|
Chromosome Location | chr17:20805654-20810355 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:23)
- CpG islands (count:183)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:23 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BCL3 | chr17:20810255-20812637 | K562 | blood: | n/a | chr17:20811749-20811762 |
2 | CEBPB | chr17:20806234-20806434 | K562 | blood: | n/a | n/a |
3 | MYC | chr17:20806922-20807114 | MCF10A-Er-Src | breast: | n/a | n/a |
4 | POLR2A | chr17:20808117-20808137 | K562 | blood: | n/a | n/a |
5 | POLR2A | chr17:20809189-20809198 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | POLR2A | chr17:20805187-20806116 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | POLR2A | chr17:20809200-20809210 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | POLR2A | chr17:20810257-20810794 | HepG2 | liver: | n/a | n/a |
9 | POLR2A | chr17:20805584-20806233 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | POLR2A | chr17:20807099-20807288 | K562 | blood: | n/a | n/a |
11 | POLR2A | chr17:20809806-20809966 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | POLR2A | chr17:20810275-20815715 | K562 | blood: | n/a | n/a |
13 | POLR2A | chr17:20809746-20809918 | K562 | blood: | n/a | n/a |
14 | POLR2A | chr17:20807210-20807265 | HepG2 | liver: | n/a | n/a |
15 | POLR2A | chr17:20807125-20807375 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | POLR2A | chr17:20805450-20806120 | K562 | blood: | n/a | n/a |
17 | POLR2A | chr17:20805848-20806305 | K562 | blood: | n/a | n/a |
18 | POLR2A | chr17:20809134-20809154 | HepG2 | liver: | n/a | n/a |
19 | POLR2A | chr17:20807238-20807239 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | POLR2A | chr17:20807246-20807362 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | POLR2A | chr17:20809164-20809173 | HepG2 | liver: | n/a | n/a |
22 | POLR2A | chr17:20805696-20806117 | K562 | blood: | n/a | n/a |
23 | POLR2A | chr17:20807572-20807700 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20805664-20805714 | SK-N-SH | brain: | n/a |
2 | chr17:20805904-20805954 | MCF10A-Er-Src | breast: | n/a |
3 | chr17:20805904-20805954 | AG09309 | skin: | n/a |
4 | chr17:20805664-20805714 | AG09309 | skin: | n/a |
5 | chr17:20805904-20805954 | GM12892 | blood: | n/a |
6 | chr17:20805664-20805714 | SKMC | muscle: | n/a |
7 | chr17:20805904-20805954 | HL-60 | blood: | n/a |
8 | chr17:20805664-20805714 | HRPEpiC | eye: | n/a |
9 | chr17:20805664-20805714 | AG09319 | gingival: | n/a |
10 | chr17:20805904-20805954 | BE2_C | brain: | n/a |
11 | chr17:20805664-20805714 | AG04450 | lung: | fetal |
12 | chr17:20805904-20805954 | HMEC | breast: | n/a |
13 | chr17:20805664-20805714 | Jurkat | blood: | n/a |
14 | chr17:20805664-20805714 | ProgFib | skin: | n/a |
15 | chr17:20805664-20805714 | U87 | brain: | n/a |
16 | chr17:20805904-20805954 | Jurkat | blood: | n/a |
17 | chr17:20809014-20809064 | HMEC | breast: | n/a |
18 | chr17:20805904-20805954 | T-47D | breast: | n/a |
19 | chr17:20809014-20809064 | IMR90 | lung: | fetal |
20 | chr17:20805664-20805714 | NB4 | blood: | n/a |
21 | chr17:20805664-20805714 | HCPEpiC | choroid plexus: | n/a |
22 | chr17:20805664-20805714 | HMEC | breast: | n/a |
23 | chr17:20805904-20805954 | HRE | kidney: | n/a |
24 | chr17:20805904-20805954 | NHBE | bronchial: | n/a |
25 | chr17:20805664-20805714 | GM12891 | blood: | n/a |
26 | chr17:20805904-20805954 | LNCaP | prostate: | n/a |
27 | chr17:20809014-20809064 | MCF10A-Er-Src | breast: | n/a |
28 | chr17:20805904-20805954 | HPAEpiC | pulmonary alveolar: | n/a |
29 | chr17:20805664-20805714 | HCM | heart: | n/a |
30 | chr17:20805664-20805714 | K562 | blood: | n/a |
31 | chr17:20809014-20809064 | AG09309 | skin: | n/a |
32 | chr17:20809014-20809064 | GM06990 | blood: | n/a |
33 | chr17:20805904-20805954 | U87 | brain: | n/a |
34 | chr17:20805664-20805714 | BJ | skin: | n/a |
35 | chr17:20809014-20809064 | NHBE | bronchial: | n/a |
36 | chr17:20805904-20805954 | AG10803 | skin: | n/a |
37 | chr17:20805904-20805954 | AG09319 | gingival: | n/a |
38 | chr17:20809014-20809064 | HEK293 | kidney: | embryo |
39 | chr17:20809014-20809064 | HRE | kidney: | n/a |
40 | chr17:20805904-20805954 | NHDF-neo | bronchial: | n/a |
41 | chr17:20805904-20805954 | GM19239 | blood: | n/a |
42 | chr17:20805664-20805714 | PANC-1 | pancreas: | n/a |
43 | chr17:20809014-20809064 | T-47D | breast: | n/a |
44 | chr17:20805904-20805954 | PFSK-1 | brain: | n/a |
45 | chr17:20805664-20805714 | GM06990 | blood: | n/a |
46 | chr17:20805664-20805714 | Hepatocyte | liver: | n/a |
47 | chr17:20805904-20805954 | PrEC | prostate: | n/a |
48 | chr17:20805904-20805954 | ProgFib | skin: | n/a |
49 | chr17:20809014-20809064 | AG04449 | skin: | fetal |
50 | chr17:20809014-20809064 | H1-hESC | embryonic stem cell: | embryo |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RNASEH1P1 | TF binding region |
RNASEH1P1 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs113009777 | chr17:20805657-20805658 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs529024455 | chr17:20805662-20805663 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs547496314 | chr17:20805664-20805665 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs7226350 | chr17:20805668-20805669 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs142187783 | chr17:20805671-20805672 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs551398706 | chr17:20805685-20805686 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs150767207 | chr17:20805696-20805697 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs112570501 | chr17:20805697-20805698 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs555761396 | chr17:20805707-20805708 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs573683819 | chr17:20805708-20805709 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs7224477 | chr17:20805764-20805765 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs553047600 | chr17:20805767-20805768 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs17690697 | chr17:20805784-20805785 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs7211002 | chr17:20805786-20805787 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs563842338 | chr17:20805826-20805827 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
16 | rs578042394 | chr17:20805827-20805828 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
17 | rs575863875 | chr17:20805828-20805829 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
18 | rs542928656 | chr17:20805857-20805858 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
19 | rs561697503 | chr17:20805884-20805885 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
20 | rs528883598 | chr17:20805896-20805897 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
21 | rs547520711 | chr17:20805925-20805926 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
22 | rs534384383 | chr17:20805929-20805930 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
23 | rs559452669 | chr17:20805944-20805945 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
24 | rs12325686 | chr17:20805946-20805947 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
25 | rs12325896 | chr17:20805950-20805951 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
26 | rs141965830 | chr17:20805968-20805969 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
27 | rs116228762 | chr17:20805970-20805971 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
28 | rs7211311 | chr17:20805973-20805974 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs185169891 | chr17:20805983-20805984 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
30 | rs548856064 | chr17:20805984-20805985 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
31 | rs567369961 | chr17:20806014-20806015 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs534652984 | chr17:20806031-20806032 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs553059911 | chr17:20806038-20806039 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs577679932 | chr17:20806045-20806046 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs538199970 | chr17:20806055-20806056 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs553460347 | chr17:20806068-20806069 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs201435947 | chr17:20806093-20806094 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs374409547 | chr17:20806122-20806123 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs538882947 | chr17:20806123-20806124 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs557558113 | chr17:20806178-20806179 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs575731547 | chr17:20806194-20806195 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs543342876 | chr17:20806203-20806204 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs569425200 | chr17:20806210-20806211 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs561562736 | chr17:20806211-20806212 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs573691085 | chr17:20806212-20806213 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs540996138 | chr17:20806219-20806220 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs369401350 | chr17:20806274-20806275 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs531923798 | chr17:20806291-20806292 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs533078251 | chr17:20806312-20806313 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs548830465 | chr17:20806314-20806315 | Weak transcription Strong transcription Enhancers Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Autism | 20808228 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:20798200-20811600 | Weak transcription | H9 Cell Line | embryonic stem cell |
2 | chr17:20798800-20806800 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
3 | chr17:20800200-20811000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
4 | chr17:20801800-20812200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr17:20802200-20807600 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
6 | chr17:20803200-20806200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
7 | chr17:20803200-20811400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
8 | chr17:20803400-20805800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
9 | chr17:20803400-20811200 | Weak transcription | H1 Cell Line | embryonic stem cell |
10 | chr17:20803400-20811400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
11 | chr17:20804200-20811800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr17:20805600-20806200 | Strong transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr17:20805600-20806200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
14 | chr17:20805800-20806000 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
15 | chr17:20805800-20806000 | Bivalent Enhancer | Fetal Muscle Leg | muscle |
16 | chr17:20805800-20806000 | Bivalent Enhancer | Fetal Stomach | stomach |
17 | chr17:20806000-20806200 | Bivalent Enhancer | Primary hematopoietic stem cells | blood |
18 | chr17:20806000-20806200 | Flanking Bivalent TSS/Enh | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
19 | chr17:20806200-20806400 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
20 | chr17:20806200-20806800 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
21 | chr17:20806200-20811000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
22 | chr17:20806200-20811400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
23 | chr17:20806800-20810200 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
24 | chr17:20807200-20811400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
25 | chr17:20807600-20808200 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
26 | chr17:20808200-20809200 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
27 | chr17:20809200-20810000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
28 | chr17:20810000-20812800 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
29 | chr17:20810200-20812600 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |