Variant report
Variant | esv20326 |
---|---|
Chromosome Location | chr17:20770633-20773328 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:195)
- CpG islands (count:183)
- Chromatin interactive region (count:1)
- LncRNA region (count:4)
- 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 | chr17:20771808-20772010 | K562 | blood: | n/a | n/a |
5 | BHLHE40 | chr17:20771094-20771527 | K562 | blood: | n/a | n/a |
6 | CBX3 | chr17:20771289-20772187 | K562 | blood: | n/a | n/a |
7 | CCNT2 | chr17:20771695-20772039 | K562 | blood: | n/a | n/a |
8 | CEBPB | chr17:20771375-20771995 | K562 | blood: | n/a | n/a |
9 | CEBPD | chr17:20771666-20772111 | K562 | blood: | n/a | n/a |
10 | CEBPD | chr17:20771738-20772231 | K562 | blood: | n/a | n/a |
11 | CHD1 | chr17:20771782-20772757 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | CHD1 | chr17:20773198-20774195 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | CHD2 | chr17:20771438-20771981 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | CHD2 | chr17:20771296-20771487 | HepG2 | liver: | n/a | n/a |
15 | CHD2 | chr17:20771264-20772113 | K562 | blood: | n/a | n/a |
16 | CTCF | chr17:20771801-20772000 | K562 | blood: | n/a | n/a |
17 | EGR1 | chr17:20771747-20772037 | K562 | blood: | n/a | n/a |
18 | EGR1 | chr17:20771730-20771956 | K562 | blood: | n/a | n/a |
19 | EGR1 | chr17:20772075-20772308 | K562 | blood: | n/a | n/a |
20 | ELF1 | chr17:20771727-20772199 | K562 | blood: | n/a | n/a |
21 | EP300 | chr17:20771375-20772057 | GM12878 | blood: | n/a | n/a |
22 | EP300 | chr17:20771727-20771968 | SK-N-SH_RA | brain: | n/a | n/a |
23 | EP300 | chr17:20771327-20772060 | K562 | blood: | n/a | n/a |
24 | EP300 | chr17:20771315-20771530 | HepG2 | liver: | n/a | n/a |
25 | EP300 | chr17:20770933-20770935 | K562 | blood: | n/a | n/a |
26 | ETS1 | chr17:20771814-20772031 | K562 | blood: | n/a | n/a |
27 | FOS | chr17:20771427-20772002 | K562 | blood: | n/a | n/a |
28 | GABPA | chr17:20771742-20772097 | SK-N-SH | brain: | n/a | n/a |
29 | GABPA | chr17:20771721-20771968 | HepG2 | liver: | n/a | n/a |
30 | GABPA | chr17:20771726-20772061 | SK-N-SH | brain: | n/a | n/a |
31 | GATA2 | chr17:20771433-20772109 | K562 | blood: | n/a | n/a |
32 | GTF2B | chr17:20771428-20772057 | K562 | blood: | n/a | n/a |
33 | GTF2F1 | chr17:20771456-20772015 | H1-hESC | embryonic stem cell: | n/a | n/a |
34 | GTF2F1 | chr17:20771147-20772038 | K562 | blood: | n/a | n/a |
35 | HCFC1 | chr17:20771375-20772064 | K562 | blood: | n/a | n/a |
36 | HEY1 | chr17:20772406-20773321 | K562 | blood: | n/a | n/a |
37 | HEY1 | chr17:20770783-20772361 | K562 | blood: | n/a | n/a |
38 | HEY1 | chr17:20770918-20772102 | HepG2 | liver: | n/a | n/a |
39 | HEY1 | chr17:20771157-20772077 | HepG2 | liver: | n/a | n/a |
40 | HEY1 | chr17:20769307-20776159 | K562 | blood: | n/a | n/a |
41 | IRF1 | chr17:20771329-20772167 | K562 | blood: | n/a | n/a |
42 | IRF1 | chr17:20772735-20772748 | K562 | blood: | n/a | n/a |
43 | IRF1 | chr17:20771398-20772101 | K562 | blood: | n/a | n/a |
44 | JUN | chr17:20771447-20772005 | K562 | blood: | n/a | n/a |
45 | JUND | chr17:20771321-20772024 | K562 | blood: | n/a | n/a |
46 | MAFF | chr17:20772549-20772799 | K562 | blood: | n/a | n/a |
47 | MAFF | chr17:20771485-20771678 | HepG2 | liver: | n/a | chr17:20771551-20771569 |
48 | MAFK | chr17:20771651-20771987 | K562 | blood: | n/a | n/a |
49 | MAX | chr17:20771761-20772048 | SK-N-SH | brain: | n/a | n/a |
50 | MAX | chr17:20771139-20771615 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20771879-20771929 | MCF-7 | breast: | n/a |
2 | chr17:20771879-20771929 | HMEC | breast: | n/a |
3 | chr17:20771879-20771929 | RPTEC | kidney: | n/a |
4 | chr17:20771377-20771427 | MCF-7 | breast: | n/a |
5 | chr17:20771551-20771601 | HAEpiC | amniotic membrane: | n/a |
6 | chr17:20771551-20771601 | PrEC | prostate: | n/a |
7 | chr17:20771879-20771929 | MCF10A-Er-Src | breast: | n/a |
8 | chr17:20771879-20771929 | HIPEpiC | eye: | n/a |
9 | chr17:20771551-20771601 | HCT-116 | colon: | n/a |
10 | chr17:20771551-20771601 | HIPEpiC | eye: | n/a |
11 | chr17:20771377-20771427 | BE2_C | brain: | n/a |
12 | chr17:20771879-20771929 | SK-N-MC | brain: | n/a |
13 | chr17:20771551-20771601 | ECC-1 | luminal epithelium: | n/a |
14 | chr17:20771377-20771427 | HepG2 | liver: | n/a |
15 | chr17:20771879-20771929 | CMK | blood: | n/a |
16 | chr17:20771879-20771929 | PANC-1 | pancreas: | n/a |
17 | chr17:20771551-20771601 | H1-hESC | embryonic stem cell: | embryo |
18 | chr17:20771377-20771427 | HEK293 | kidney: | embryo |
19 | chr17:20771879-20771929 | LNCaP | prostate: | n/a |
20 | chr17:20771879-20771929 | HEEpiC | esophagus: | n/a |
21 | chr17:20771377-20771427 | CMK | blood: | n/a |
22 | chr17:20771879-20771929 | PrEC | prostate: | n/a |
23 | chr17:20771377-20771427 | SKMC | muscle: | n/a |
24 | chr17:20771551-20771601 | HRE | kidney: | n/a |
25 | chr17:20771879-20771929 | GM12878 | blood: | n/a |
26 | chr17:20771879-20771929 | HCT-116 | colon: | n/a |
27 | chr17:20771377-20771427 | HUVEC | blood vessel: | n/a |
28 | chr17:20771377-20771427 | HAEpiC | amniotic membrane: | n/a |
29 | chr17:20771879-20771929 | NB4 | blood: | n/a |
30 | chr17:20771879-20771929 | Jurkat | blood: | n/a |
31 | chr17:20771879-20771929 | SKMC | muscle: | n/a |
32 | chr17:20771551-20771601 | HepG2 | liver: | n/a |
33 | chr17:20771377-20771427 | RPTEC | kidney: | n/a |
34 | chr17:20771377-20771427 | T-47D | breast: | n/a |
35 | chr17:20771879-20771929 | IMR90 | lung: | fetal |
36 | chr17:20771551-20771601 | AG04449 | skin: | fetal |
37 | chr17:20771377-20771427 | IMR90 | lung: | fetal |
38 | chr17:20771879-20771929 | BJ | skin: | n/a |
39 | chr17:20771879-20771929 | ovcar-3 | ovarian: | n/a |
40 | chr17:20771551-20771601 | BE2_C | brain: | n/a |
41 | chr17:20771551-20771601 | LNCaP | prostate: | n/a |
42 | chr17:20771551-20771601 | AG09309 | skin: | n/a |
43 | chr17:20771879-20771929 | NH-A | brain: | n/a |
44 | chr17:20771377-20771427 | LNCaP | prostate: | n/a |
45 | chr17:20771879-20771929 | ProgFib | skin: | n/a |
46 | chr17:20771551-20771601 | IMR90 | lung: | fetal |
47 | chr17:20771377-20771427 | GM19239 | blood: | n/a |
48 | chr17:20771879-20771929 | H1-hESC | embryonic stem cell: | embryo |
49 | chr17:20771377-20771427 | HCT-116 | colon: | n/a |
50 | chr17:20771879-20771929 | SK-N-SH | brain: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20769754..20771503-chr17:25415743..25417258,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DHRS7B-5 | chr17:20771810-20771998 | ENSG00000233098.3 |
2 | lnc-DHRS7B-5 | chr17:20771818-20771998 | ENSG00000233098.3 |
3 | lnc-DHRS7B-5 | chr17:20771860-20771998 | ENSG00000233098.3 |
4 | lnc-DHRS7B-5 | chr17:20771856-20771998 | ENSG00000233098.3 |
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 | rs566777531 | chr17:20770644-20770645 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs112375141 | chr17:20770689-20770690 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs558794853 | chr17:20770697-20770698 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs371241636 | chr17:20770708-20770709 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs80093728 | chr17:20770739-20770740 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs540571385 | chr17:20770740-20770741 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs77966516 | chr17:20770744-20770745 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs369533402 | chr17:20770745-20770746 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs72838139 | chr17:20770752-20770753 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs374309403 | chr17:20770756-20770757 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs576969820 | chr17:20770762-20770763 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs75929647 | chr17:20770814-20770815 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs556371009 | chr17:20770815-20770816 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs574656473 | chr17:20770825-20770826 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs74504743 | chr17:20770838-20770839 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs377679710 | chr17:20770842-20770843 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs371184408 | chr17:20770845-20770846 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs374279685 | chr17:20770849-20770850 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs74910416 | chr17:20770859-20770860 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs542138694 | chr17:20770863-20770864 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs77091504 | chr17:20770872-20770873 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs572759247 | chr17:20770873-20770874 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs374479453 | chr17:20770890-20770891 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs367576769 | chr17:20770892-20770893 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs540264826 | chr17:20770898-20770899 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs564724562 | chr17:20770906-20770907 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs75987448 | chr17:20770909-20770910 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs78552525 | chr17:20770910-20770911 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs75117657 | chr17:20770912-20770913 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs556436752 | chr17:20770923-20770924 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs550681070 | chr17:20770938-20770939 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs74834792 | chr17:20770941-20770942 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs529890047 | chr17:20770947-20770948 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs77765740 | chr17:20770957-20770958 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs80355019 | chr17:20770961-20770962 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs548193409 | chr17:20770963-20770964 | Weak transcription ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs75017978 | chr17:20771001-20771002 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs9906560 | chr17:20771003-20771004 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs78521525 | chr17:20771022-20771023 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs533840508 | chr17:20771028-20771029 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs77501428 | chr17:20771041-20771042 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs570494563 | chr17:20771049-20771050 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs75059936 | chr17:20771065-20771066 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs556211485 | chr17:20771074-20771075 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs370628158 | chr17:20771082-20771083 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs202043203 | chr17:20771088-20771089 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs373452920 | chr17:20771089-20771090 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs200009534 | chr17:20771098-20771099 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs62066980 | chr17:20771106-20771107 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs574695146 | chr17:20771114-20771115 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS 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 | chr17:20770800-20771800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
5 | chr17:20771000-20772200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr17:20771000-20773000 | Bivalent/Poised TSS | HepG2 | liver |
7 | chr17:20771200-20771400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr17:20771200-20771600 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
9 | chr17:20771200-20771800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
10 | chr17:20771200-20773600 | Active TSS | H9 Derived Neuron Cultured Cells | ES cell derived |
11 | chr17:20771200-20774000 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
12 | chr17:20771200-20774200 | Active TSS | iPS DF 6.9 Cell Line | embryonic stem cell |
13 | chr17:20771200-20774800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
14 | chr17:20771200-20775200 | Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr17:20771400-20772000 | Weak transcription | Pancreas | Pancrea |
16 | chr17:20771400-20774600 | Active TSS | iPS-18 Cell Line | embryonic stem cell |
17 | chr17:20771600-20775000 | Active TSS | H1 Cell Line | embryonic stem cell |
18 | chr17:20771800-20772000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
19 | chr17:20771800-20772200 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
20 | chr17:20771800-20772400 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
21 | chr17:20771800-20773000 | Active TSS | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
22 | chr17:20771800-20774000 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
23 | chr17:20771800-20774200 | Active TSS | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
24 | chr17:20771800-20774200 | Active TSS | HUES48 Cell Line | embryonic stem cell |
25 | chr17:20771800-20774200 | Active TSS | HUES64 Cell Line | embryonic stem cell |
26 | chr17:20771800-20774400 | Active TSS | ES-WA7 Cell Line | embryonic stem cell |
27 | chr17:20771800-20774400 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
28 | chr17:20771800-20775000 | Active TSS | HUES6 Cell Line | embryonic stem cell |
29 | chr17:20772000-20774600 | Active TSS | iPS-20b Cell Line | embryonic stem cell |
30 | chr17:20772200-20772800 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
31 | chr17:20772200-20774000 | Active TSS | H9 Cell Line | embryonic stem cell |
32 | chr17:20772200-20774000 | Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |
33 | chr17:20772200-20774200 | Active TSS | ES-UCSF4 Cell Line | embryonic stem cell |
34 | chr17:20772400-20773400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
35 | chr17:20773000-20775200 | Active TSS | HepG2 | liver |