Variant report
Variant | esv3316000 |
---|---|
Chromosome Location | chr17:20770368-20771805 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:175)
- CpG islands (count:124)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- 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 | ARID3A | chr17:20771647-20772028 | HepG2 | liver: | n/a | n/a |
2 | ATF1 | chr17:20771215-20771847 | K562 | blood: | n/a | n/a |
3 | BCLAF1 | chr17:20771699-20774204 | K562 | blood: | n/a | n/a |
4 | BHLHE40 | chr17:20771094-20771527 | K562 | blood: | n/a | n/a |
5 | CBX3 | chr17:20771289-20772187 | K562 | blood: | n/a | n/a |
6 | CCNT2 | chr17:20771695-20772039 | K562 | blood: | n/a | n/a |
7 | CEBPB | chr17:20771375-20771995 | K562 | blood: | n/a | n/a |
8 | CEBPD | chr17:20771666-20772111 | K562 | blood: | n/a | n/a |
9 | CEBPD | chr17:20771738-20772231 | K562 | blood: | n/a | n/a |
10 | CHD1 | chr17:20771782-20772757 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | CHD2 | chr17:20771264-20772113 | K562 | blood: | n/a | n/a |
12 | CHD2 | chr17:20771296-20771487 | HepG2 | liver: | n/a | n/a |
13 | CHD2 | chr17:20771438-20771981 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | CTCF | chr17:20771801-20772000 | K562 | blood: | n/a | n/a |
15 | EGR1 | chr17:20771747-20772037 | K562 | blood: | n/a | n/a |
16 | EGR1 | chr17:20771730-20771956 | K562 | blood: | n/a | n/a |
17 | ELF1 | chr17:20771727-20772199 | K562 | blood: | n/a | n/a |
18 | EP300 | chr17:20771327-20772060 | K562 | blood: | n/a | n/a |
19 | EP300 | chr17:20770933-20770935 | K562 | blood: | n/a | n/a |
20 | EP300 | chr17:20771315-20771530 | HepG2 | liver: | n/a | n/a |
21 | EP300 | chr17:20771727-20771968 | SK-N-SH_RA | brain: | n/a | n/a |
22 | EP300 | chr17:20771375-20772057 | GM12878 | blood: | n/a | n/a |
23 | FOS | chr17:20771427-20772002 | K562 | blood: | n/a | n/a |
24 | GABPA | chr17:20771721-20771968 | HepG2 | liver: | n/a | n/a |
25 | GABPA | chr17:20771742-20772097 | SK-N-SH | brain: | n/a | n/a |
26 | GABPA | chr17:20771726-20772061 | SK-N-SH | brain: | n/a | n/a |
27 | GATA2 | chr17:20771433-20772109 | K562 | blood: | n/a | n/a |
28 | GTF2B | chr17:20771428-20772057 | K562 | blood: | n/a | n/a |
29 | GTF2F1 | chr17:20771456-20772015 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | GTF2F1 | chr17:20771147-20772038 | K562 | blood: | n/a | n/a |
31 | HCFC1 | chr17:20771375-20772064 | K562 | blood: | n/a | n/a |
32 | HEY1 | chr17:20771157-20772077 | HepG2 | liver: | n/a | n/a |
33 | HEY1 | chr17:20770918-20772102 | HepG2 | liver: | n/a | n/a |
34 | HEY1 | chr17:20769307-20776159 | K562 | blood: | n/a | n/a |
35 | HEY1 | chr17:20770783-20772361 | K562 | blood: | n/a | n/a |
36 | HEY1 | chr17:20769547-20770521 | K562 | blood: | n/a | n/a |
37 | IRF1 | chr17:20771329-20772167 | K562 | blood: | n/a | n/a |
38 | IRF1 | chr17:20771398-20772101 | K562 | blood: | n/a | n/a |
39 | JUN | chr17:20771447-20772005 | K562 | blood: | n/a | n/a |
40 | JUND | chr17:20771321-20772024 | K562 | blood: | n/a | n/a |
41 | MAFF | chr17:20771485-20771678 | HepG2 | liver: | n/a | chr17:20771551-20771569 |
42 | MAFK | chr17:20771651-20771987 | K562 | blood: | n/a | n/a |
43 | MAX | chr17:20770305-20770596 | K562 | blood: | n/a | n/a |
44 | MAX | chr17:20771139-20771615 | K562 | blood: | n/a | n/a |
45 | MAX | chr17:20771743-20772029 | SK-N-SH | brain: | n/a | n/a |
46 | MAX | chr17:20771745-20771986 | K562 | blood: | n/a | n/a |
47 | MAX | chr17:20771790-20772026 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | MAX | chr17:20771732-20772127 | K562 | blood: | n/a | n/a |
49 | MAX | chr17:20771761-20772048 | SK-N-SH | brain: | n/a | n/a |
50 | MAZ | chr17:20771435-20772273 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20771551-20771601 | GM12891 | blood: | n/a |
2 | chr17:20771377-20771427 | LNCaP | prostate: | n/a |
3 | chr17:20771551-20771601 | GM12891 | blood: | n/a |
4 | chr17:20771377-20771427 | LNCaP | prostate: | n/a |
5 | chr17:20771377-20771427 | HL-60 | blood: | n/a |
6 | chr17:20771377-20771427 | HCPEpiC | choroid plexus: | n/a |
7 | chr17:20771551-20771601 | SK-N-MC | brain: | n/a |
8 | chr17:20771377-20771427 | AoSMC | blood vessel: | n/a |
9 | chr17:20771551-20771601 | HNPCEpiC | eye: | n/a |
10 | chr17:20771551-20771601 | HCF | heart: | n/a |
11 | chr17:20771377-20771427 | HRE | kidney: | n/a |
12 | chr17:20771377-20771427 | HNPCEpiC | eye: | n/a |
13 | chr17:20771551-20771601 | SKMC | muscle: | n/a |
14 | chr17:20771551-20771601 | HCM | heart: | n/a |
15 | chr17:20771377-20771427 | HIPEpiC | eye: | n/a |
16 | chr17:20771551-20771601 | HRPEpiC | eye: | n/a |
17 | chr17:20771377-20771427 | GM12891 | blood: | n/a |
18 | chr17:20771377-20771427 | HUVEC | blood vessel: | n/a |
19 | chr17:20771377-20771427 | H1-hESC | embryonic stem cell: | embryo |
20 | chr17:20771377-20771427 | SAEC | small airway: | n/a |
21 | chr17:20771551-20771601 | HCPEpiC | choroid plexus: | n/a |
22 | chr17:20771551-20771601 | MCF10A-Er-Src | breast: | n/a |
23 | chr17:20771377-20771427 | HEEpiC | esophagus: | n/a |
24 | chr17:20771551-20771601 | SK-N-SH_RA | brain: | n/a |
25 | chr17:20771551-20771601 | BE2_C | brain: | n/a |
26 | chr17:20771377-20771427 | PANC-1 | pancreas: | n/a |
27 | chr17:20771377-20771427 | NB4 | blood: | n/a |
28 | chr17:20771551-20771601 | Hela-S3 | cervix: | n/a |
29 | chr17:20771551-20771601 | T-47D | breast: | n/a |
30 | chr17:20771551-20771601 | Jurkat | blood: | n/a |
31 | chr17:20771377-20771427 | Caco-2 | colon: | n/a |
32 | chr17:20771551-20771601 | RPTEC | kidney: | n/a |
33 | chr17:20771377-20771427 | HepG2 | liver: | n/a |
34 | chr17:20771377-20771427 | MCF10A-Er-Src | breast: | n/a |
35 | chr17:20771377-20771427 | Hepatocyte | liver: | n/a |
36 | chr17:20771551-20771601 | SAEC | small airway: | n/a |
37 | chr17:20771551-20771601 | MCF-7 | breast: | n/a |
38 | chr17:20771551-20771601 | ProgFib | skin: | n/a |
39 | chr17:20771551-20771601 | HepG2 | liver: | n/a |
40 | chr17:20771377-20771427 | HRPEpiC | eye: | n/a |
41 | chr17:20771551-20771601 | GM06990 | blood: | n/a |
42 | chr17:20771551-20771601 | AoSMC | blood vessel: | n/a |
43 | chr17:20771551-20771601 | BJ | skin: | n/a |
44 | chr17:20771551-20771601 | SK-N-SH | brain: | n/a |
45 | chr17:20771377-20771427 | Hela-S3 | cervix: | n/a |
46 | chr17:20771377-20771427 | SKMC | muscle: | n/a |
47 | chr17:20771377-20771427 | AG04450 | lung: | fetal |
48 | chr17:20771377-20771427 | HAEpiC | amniotic membrane: | n/a |
49 | chr17:20771377-20771427 | AG10803 | skin: | n/a |
50 | chr17:20771377-20771427 | NHBE | bronchial: | n/a |
(count:2 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CCDC144NL | TF binding region |
ENSG00000233098 | TF binding region |
CCDC144NL | CpG island |
ENSG00000233098 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs78121533 | chr17:20770372-20770373 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs79414585 | chr17:20770393-20770394 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs114768187 | chr17:20770408-20770409 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs77434613 | chr17:20770419-20770420 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs72838137 | chr17:20770423-20770424 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs573177075 | chr17:20770449-20770450 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs73298047 | chr17:20770453-20770454 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs558982988 | chr17:20770461-20770462 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs9899981 | chr17:20770474-20770475 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs76396285 | chr17:20770478-20770479 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs562737826 | chr17:20770480-20770481 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs80227424 | chr17:20770485-20770486 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs530351211 | chr17:20770486-20770487 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs542100248 | chr17:20770498-20770499 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs372283067 | chr17:20770501-20770502 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs375814860 | chr17:20770504-20770505 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs560736322 | chr17:20770506-20770507 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs528060750 | chr17:20770510-20770511 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs78897158 | chr17:20770512-20770513 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs116577386 | chr17:20770525-20770526 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs571279243 | chr17:20770533-20770534 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs141450311 | chr17:20770546-20770547 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs202138290 | chr17:20770548-20770549 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs532236283 | chr17:20770549-20770550 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs200347724 | chr17:20770568-20770569 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs189110742 | chr17:20770574-20770575 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs569051196 | chr17:20770575-20770576 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs536585591 | chr17:20770577-20770578 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs115284220 | chr17:20770580-20770581 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs373254249 | chr17:20770597-20770598 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs114073249 | chr17:20770598-20770599 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs114623999 | chr17:20770599-20770600 | ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs117159141 | chr17:20770611-20770612 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs78429114 | chr17:20770617-20770618 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs75664468 | chr17:20770619-20770620 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs9900429 | chr17:20770627-20770628 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs566777531 | chr17:20770644-20770645 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs112375141 | chr17:20770689-20770690 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs558794853 | chr17:20770697-20770698 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs371241636 | chr17:20770708-20770709 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs80093728 | chr17:20770739-20770740 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs540571385 | chr17:20770740-20770741 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs77966516 | chr17:20770744-20770745 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs369533402 | chr17:20770745-20770746 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs72838139 | chr17:20770752-20770753 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs374309403 | chr17:20770756-20770757 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs576969820 | chr17:20770762-20770763 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs75929647 | chr17:20770814-20770815 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs556371009 | chr17:20770815-20770816 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs574656473 | chr17:20770825-20770826 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | 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 |
Autism | 20808228 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:20769400-20778000 | Active TSS | K562 | blood |
2 | chr17:20769600-20771000 | Active TSS | HepG2 | liver |
3 | chr17:20770200-20772200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr17:20770400-20770600 | Enhancers | Pancreas | Pancrea |
5 | chr17:20770800-20771800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
6 | chr17:20771000-20772200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr17:20771000-20773000 | Bivalent/Poised TSS | HepG2 | liver |
8 | chr17:20771200-20771400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
9 | chr17:20771200-20771600 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
10 | chr17:20771200-20771800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
11 | chr17:20771200-20773600 | Active TSS | H9 Derived Neuron Cultured Cells | ES cell derived |
12 | chr17:20771200-20774000 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
13 | chr17:20771200-20774200 | Active TSS | iPS DF 6.9 Cell Line | embryonic stem cell |
14 | chr17:20771200-20774800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
15 | chr17:20771200-20775200 | Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
16 | chr17:20771400-20772000 | Weak transcription | Pancreas | Pancrea |
17 | chr17:20771400-20774600 | Active TSS | iPS-18 Cell Line | embryonic stem cell |
18 | chr17:20771600-20775000 | Active TSS | H1 Cell Line | embryonic stem cell |
19 | chr17:20771800-20772000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
20 | chr17:20771800-20772200 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
21 | chr17:20771800-20772400 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
22 | chr17:20771800-20773000 | Active TSS | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
23 | chr17:20771800-20774000 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
24 | chr17:20771800-20774200 | Active TSS | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
25 | chr17:20771800-20774200 | Active TSS | HUES48 Cell Line | embryonic stem cell |
26 | chr17:20771800-20774200 | Active TSS | HUES64 Cell Line | embryonic stem cell |
27 | chr17:20771800-20774400 | Active TSS | ES-WA7 Cell Line | embryonic stem cell |
28 | chr17:20771800-20774400 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
29 | chr17:20771800-20775000 | Active TSS | HUES6 Cell Line | embryonic stem cell |