Variant report
Variant | esv14331 |
---|---|
Chromosome Location | chr17:20459147-20491117 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:73)
- CpG islands (count:672)
- Chromatin interactive region (count:1)
- LncRNA region (count:14)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr17:20469051-20469059 | Hela-S3 | cervix: | n/a | n/a |
2 | CEBPB | chr17:20468918-20469141 | HepG2 | liver: | n/a | chr17:20469062-20469073 |
3 | CEBPB | chr17:20474419-20474705 | HepG2 | liver: | n/a | chr17:20474573-20474584 |
4 | CEBPB | chr17:20474531-20474698 | IMR90 | lung: | n/a | chr17:20474573-20474584 |
5 | CEBPB | chr17:20469063-20469069 | K562 | blood: | n/a | n/a |
6 | CEBPB | chr17:20474412-20474706 | A549 | lung: | n/a | chr17:20474573-20474584 |
7 | CEBPB | chr17:20474504-20474704 | Hela-S3 | cervix: | n/a | chr17:20474573-20474584 |
8 | CTCF | chr17:20461607-20461627 | GM10248 | blood: | n/a | n/a |
9 | CTCF | chr17:20473805-20473839 | GM13976 | blood: | n/a | n/a |
10 | CTCF | chr17:20487357-20487462 | K562 | blood: | n/a | n/a |
11 | CTCF | chr17:20487351-20487529 | Fibrobl | skin: | n/a | n/a |
12 | CTCF | chr17:20487387-20487440 | LNCaP | prostate: | n/a | n/a |
13 | CTCF | chr17:20467202-20467272 | Kidney_OC | kidney: | n/a | n/a |
14 | CTCF | chr17:20487326-20487535 | GM12878 | blood: | n/a | n/a |
15 | CTCF | chr17:20487336-20487504 | ProgFib | skin: | n/a | n/a |
16 | CTCF | chr17:20487360-20487490 | HepG2 | liver: | n/a | n/a |
17 | CTCF | chr17:20487369-20487493 | GM19238 | blood: | n/a | n/a |
18 | CTCF | chr17:20487312-20487526 | GM12891 | blood: | n/a | n/a |
19 | CTCF | chr17:20487329-20487520 | Hela-S3 | cervix: | n/a | n/a |
20 | CTCF | chr17:20487314-20487552 | GM12892 | blood: | n/a | n/a |
21 | CTCF | chr17:20487327-20487528 | A549 | lung: | n/a | n/a |
22 | CTCF | chr17:20487298-20487527 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | CTCF | chr17:20487308-20487542 | Gliobla | brain: | n/a | n/a |
24 | CTCF | chr17:20487480-20487630 | HEK293 | kidney: | n/a | n/a |
25 | CTCF | chr17:20487302-20487541 | MCF-7 | breast: | n/a | n/a |
26 | CTCF | chr17:20472223-20472240 | GM10266 | blood: | n/a | n/a |
27 | CTCF | chr17:20487301-20487561 | MCF-7 | breast: | n/a | n/a |
28 | CTCF | chr17:20487440-20487590 | SAEC | small airway: | n/a | n/a |
29 | CTCF | chr17:20487480-20487630 | GM12873 | blood: | n/a | n/a |
30 | CTCF | chr17:20487440-20487590 | SK-N-SH_RA | brain: | n/a | n/a |
31 | CTCF | chr17:20477727-20477839 | GM20000 | blood: | n/a | n/a |
32 | CTCF | chr17:20487353-20487496 | GM19240 | blood: | n/a | n/a |
33 | CTCF | chr17:20487375-20487526 | Pancreas_OC | pancreas: | n/a | n/a |
34 | CTCF | chr17:20487262-20487496 | A549 | lung: | n/a | n/a |
35 | CTCF | chr17:20466716-20466765 | GM10266 | blood: | n/a | n/a |
36 | CTCF | chr17:20487394-20487465 | HUVEC | blood vessel: | n/a | n/a |
37 | CTCF | chr17:20461592-20461601 | GM10248 | blood: | n/a | n/a |
38 | CTCF | chr17:20487287-20487548 | MCF-7 | breast: | n/a | n/a |
39 | CTCF | chr17:20487329-20487537 | NHEK | skin: | n/a | n/a |
40 | CTCF | chr17:20487305-20487537 | MCF-7 | breast: | n/a | n/a |
41 | CTCF | chr17:20487356-20487475 | GM19239 | blood: | n/a | n/a |
42 | CTCF | chr17:20487293-20487541 | MCF-7 | breast: | n/a | n/a |
43 | CTCF | chr17:20487371-20487483 | Medullo | brain: | n/a | n/a |
44 | EP300 | chr17:20487434-20488099 | SK-N-SH | brain: | n/a | n/a |
45 | FOXA2 | chr17:20476612-20477221 | A549 | lung: | n/a | n/a |
46 | FOXA2 | chr17:20460992-20461286 | A549 | lung: | n/a | n/a |
47 | GABPA | chr17:20475076-20475338 | Hela-S3 | cervix: | n/a | n/a |
48 | GATA2 | chr17:20461039-20461297 | K562 | blood: | n/a | n/a |
49 | JUND | chr17:20463805-20463978 | K562 | blood: | n/a | chr17:20463845-20463853 chr17:20463844-20463854 chr17:20463844-20463854 chr17:20463845-20463852 chr17:20463845-20463853 chr17:20463844-20463854 chr17:20463844-20463854 |
50 | MAX | chr17:20465764-20465921 | NB4 | blood: | n/a | chr17:20465905-20465915 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20464366-20464416 | ECC-1 | luminal epithelium: | n/a |
2 | chr17:20464366-20464416 | ECC-1 | luminal epithelium: | n/a |
3 | chr17:20481830-20481880 | HNPCEpiC | eye: | n/a |
4 | chr17:20480574-20480624 | NB4 | blood: | n/a |
5 | chr17:20491042-20491092 | HepG2 | liver: | n/a |
6 | chr17:20464366-20464416 | NHDF-neo | bronchial: | n/a |
7 | chr17:20467831-20467881 | MCF10A-Er-Src | breast: | n/a |
8 | chr17:20467917-20467967 | AoSMC | blood vessel: | n/a |
9 | chr17:20467831-20467881 | BE2_C | brain: | n/a |
10 | chr17:20460588-20460638 | AG04449 | skin: | fetal |
11 | chr17:20460588-20460638 | AoSMC | blood vessel: | n/a |
12 | chr17:20464366-20464416 | HIPEpiC | eye: | n/a |
13 | chr17:20460627-20460677 | Hela-S3 | cervix: | n/a |
14 | chr17:20464366-20464416 | LNCaP | prostate: | n/a |
15 | chr17:20481830-20481880 | IMR90 | lung: | fetal |
16 | chr17:20465437-20465487 | HL-60 | blood: | n/a |
17 | chr17:20491042-20491092 | GM06990 | blood: | n/a |
18 | chr17:20467965-20468015 | H1-hESC | embryonic stem cell: | embryo |
19 | chr17:20460627-20460677 | AG10803 | skin: | n/a |
20 | chr17:20489071-20489121 | GM06990 | blood: | n/a |
21 | chr17:20460588-20460638 | HRCEpiC | kidney: | n/a |
22 | chr17:20460588-20460638 | RPTEC | kidney: | n/a |
23 | chr17:20491042-20491092 | NB4 | blood: | n/a |
24 | chr17:20481830-20481880 | BE2_C | brain: | n/a |
25 | chr17:20491042-20491092 | SK-N-SH_RA | brain: | n/a |
26 | chr17:20460627-20460677 | SKMC | muscle: | n/a |
27 | chr17:20489071-20489121 | HPAEpiC | pulmonary alveolar: | n/a |
28 | chr17:20467831-20467881 | NB4 | blood: | n/a |
29 | chr17:20491042-20491092 | HIPEpiC | eye: | n/a |
30 | chr17:20467965-20468015 | HMEC | breast: | n/a |
31 | chr17:20481830-20481880 | A549 | lung: | n/a |
32 | chr17:20480574-20480624 | GM12878 | blood: | n/a |
33 | chr17:20467917-20467967 | SK-N-SH | brain: | n/a |
34 | chr17:20464366-20464416 | AG09309 | skin: | n/a |
35 | chr17:20467831-20467881 | PrEC | prostate: | n/a |
36 | chr17:20460588-20460638 | HIPEpiC | eye: | n/a |
37 | chr17:20467965-20468015 | AG04449 | skin: | fetal |
38 | chr17:20467965-20468015 | SAEC | small airway: | n/a |
39 | chr17:20467831-20467881 | HCF | heart: | n/a |
40 | chr17:20491042-20491092 | HEEpiC | esophagus: | n/a |
41 | chr17:20480574-20480624 | HepG2 | liver: | n/a |
42 | chr17:20491042-20491092 | NHDF-neo | bronchial: | n/a |
43 | chr17:20467831-20467881 | HNPCEpiC | eye: | n/a |
44 | chr17:20467831-20467881 | HepG2 | liver: | n/a |
45 | chr17:20460588-20460638 | AG10803 | skin: | n/a |
46 | chr17:20464366-20464416 | HCPEpiC | choroid plexus: | n/a |
47 | chr17:20481830-20481880 | SK-N-SH | brain: | n/a |
48 | chr17:20480574-20480624 | U87 | brain: | n/a |
49 | chr17:20467917-20467967 | HUVEC | blood vessel: | n/a |
50 | chr17:20460627-20460677 | A549 | lung: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18289123..18291183-chr17:20462480..20465308,2 | MCF-7 | breast: |
(count:14 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LGALS9B-2 | chr17:20479798-20480107 | XLOC_012419 |
2 | lnc-LGALS9B-2 | chr17:20478827-20479172 | XLOC_012419 |
3 | lnc-LGALS9B-2 | chr17:20479866-20480107 | XLOC_012419 |
4 | lnc-LGALS9B-2 | chr17:20479798-20480107 | XLOC_012419 |
5 | lnc-LGALS9B-13 | chr17:20462661-20462723 | NONHSAT146793 |
6 | lnc-LGALS9B-2 | chr17:20479980-20480210 | ENSG00000264422.1 |
7 | lnc-LGALS9B-2 | chr17:20478895-20479172 | XLOC_012419 |
8 | lnc-LGALS9B-13 | chr17:20459470-20459532 | NONHSAT146793 |
9 | lnc-LGALS9B-2 | chr17:20478895-20479010 | XLOC_012419 |
10 | lnc-LGALS9B-2 | chr17:20481940-20482234 | XLOC_012419 |
11 | lnc-LGALS9B-2 | chr17:20481940-20482061 | ENSG00000264422.1 |
12 | lnc-LGALS9B-2 | chr17:20481940-20482234 | XLOC_012419 |
13 | lnc-LGALS9B-2 | chr17:20481940-20482149 | XLOC_012419 |
14 | lnc-LGALS9B-2 | chr17:20479798-20480255 | XLOC_012419 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000263946 | TF binding region |
COTL1P2 | TF binding region |
MEIS3P2 | TF binding region |
ENSG00000264422 | TF binding region |
TBC1D3P3 | TF binding region |
CDRT15L2 | TF binding region |
ENSG00000263946 | CpG island |
COTL1P2 | CpG island |
MEIS3P2 | CpG island |
ENSG00000264422 | CpG island |
TBC1D3P3 | CpG island |
CDRT15L2 | CpG island |
ENSG00000214860 | chromatin interactions |
VPS4B | miRNA target sites |
RNF125 | miRNA target sites |
GTF3C4 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7215911 | chr17:20459155-20459156 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
2 | rs1619339 | chr17:20459190-20459191 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
3 | rs146401692 | chr17:20459208-20459209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs552151104 | chr17:20459212-20459213 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs189601718 | chr17:20459216-20459217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs538297308 | chr17:20459235-20459236 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs550024002 | chr17:20459236-20459237 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs181862947 | chr17:20459238-20459239 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs2955840 | chr17:20459244-20459245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs369711610 | chr17:20459266-20459267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs11657407 | chr17:20459319-20459320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs75488724 | chr17:20459328-20459329 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs114002028 | chr17:20459338-20459339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs568268300 | chr17:20459340-20459341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs67501675 | chr17:20459341-20459342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs57597909 | chr17:20459343-20459344 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs58640533 | chr17:20459354-20459355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs540138109 | chr17:20459358-20459359 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs574714150 | chr17:20459405-20459406 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs201115001 | chr17:20459413-20459414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs558486446 | chr17:20459429-20459430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs377534181 | chr17:20459447-20459448 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs576777245 | chr17:20459451-20459452 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs113399845 | chr17:20459461-20459462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs112800985 | chr17:20459471-20459472 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs113624258 | chr17:20459506-20459507 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs373919855 | chr17:20459581-20459582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs184799780 | chr17:20459586-20459587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs57570943 | chr17:20459595-20459596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs116884879 | chr17:20460261-20460262 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs181506559 | chr17:20460264-20460265 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs201302813 | chr17:20460282-20460283 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs138711766 | chr17:20460285-20460286 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs553540280 | chr17:20460311-20460312 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs368544320 | chr17:20460326-20460327 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs571943294 | chr17:20460339-20460340 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs546055105 | chr17:20460361-20460362 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs143015590 | chr17:20460366-20460367 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs11870436 | chr17:20460417-20460418 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs543409104 | chr17:20460420-20460421 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs562113905 | chr17:20460433-20460434 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs529399585 | chr17:20460466-20460467 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs547947899 | chr17:20460469-20460470 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs186579199 | chr17:20460512-20460513 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs533336999 | chr17:20460541-20460542 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs11870625 | chr17:20460606-20460607 | Inactive region | TF binding regionCpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs570214035 | chr17:20460607-20460608 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs537752018 | chr17:20460613-20460614 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs572945230 | chr17:20460617-20460618 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs538953945 | chr17:20460628-20460629 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Chordoma | 21602918 | CNVD |
Miller-Dieker syndrome | 22283845 | CNVD |
Non-syndromic sensorineural hearing loss | 17457615 | CNVD |
Cancer | 22429812 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 20837533 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
colon cancer | 17210682 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Chronic lymphocytic leukemia | 17971485 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Breast cancer | 16461572 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Moyamoya disease | 22323933 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20724749 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Colorectal cancer | 21645411 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
HIV/AIDS | 17953491 | CNVD |
HIV/AIDS | 20877625 | CNVD |
Immune disease | 21076436 | CNVD |
Rheumatoid arthritis | 17953491 | CNVD |
Type 1 diabetes | 17953491 | CNVD |
HIV/AIDS | 15637236 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Neurofibromatosis | 18196300 | CNVD |
Breast cancer | 17001317 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Charcot-marie-tooth disease | 16463004 | CNVD |
Osteosarcoma | 22292074 | CNVD |
Breast cancer | 17603634 | CNVD |
Charcot | 16760730 | CNVD |
Mental retardation | 17901693 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
ovarian endometriomas | 16273235 | CNVD |
Smith-Magenis syndrome | 18923513 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 22492990 | CNVD |
Congenital abnormalities | 21549014 | CNVD |
Developmental delay | 18414209 | CNVD |
Developmental delay | 21549014 | CNVD |
Epilepsy | 20970697 | CNVD |
Mental retardation | 18414209 | CNVD |
Mental retardation | 21549014 | CNVD |
Smith-Magenis syndrome | 21981782 | CNVD |
Smith-Magenis syndrome | 20188345 | CNVD |
Smith-Magenis syndrome | 16775514 | CNVD |
Smith-Magenis syndrome | 22585170 | CNVD |
Smith-Magenis syndrome | 22241247 | CNVD |
Autism | 20970697 | CNVD |
Mental retardation | 19951919 | CNVD |
Potocki-Lupski syndrome | 21271655 | CNVD |
Potocki-lupski syndrome | 17357070 | CNVD |
Potocki-lupski syndrome | 20110824 | CNVD |
Potocki-lupski syndrome | 18923514 | CNVD |
Potocki-lupski syndrome | 22241247 | CNVD |
Potocki-lupski syndrome | 20188345 | CNVD |
Schizophrenia | 21399695 | CNVD |
Mental retardation | 16773131 | CNVD |
Adenocarcinoma | 19607727 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Charcot-marie-tooth disease | 22470819 | CNVD |
Neurofibromatosis | 22470819 | CNVD |
Neuropathy | 22470819 | CNVD |
Smith-Magenis syndrome | 18301319 | CNVD |
Smith-Magenis syndrome | 17357070 | CNVD |
Smith-Magenis syndrome | 18469339 | CNVD |
Smith-Magenis syndrome | 22241097 | CNVD |
Smith-Magenis syndrome | 22470819 | CNVD |
Tourette syndrome | 18923514 | CNVD |
Type 1 diabetes | 22470819 | CNVD |
Potocki-lupski syndrome | 18469339 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Neuropathy | 17597781 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Smith-Magenis syndrome | 17597781 | CNVD |
Potocki-lupski syndrome | 18059269 | CNVD |
Potocki-lupski syndrome | 17597781 | CNVD |
Mental retardation | 17847001 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:20458600-20459200 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
2 | chr17:20458600-20459400 | Enhancers | Primary B cells from peripheral blood | blood |
3 | chr17:20458600-20459400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
4 | chr17:20458600-20459600 | Enhancers | Primary monocytes fromperipheralblood | blood |
5 | chr17:20459000-20459200 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
6 | chr17:20459000-20459400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
7 | chr17:20459000-20459400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
8 | chr17:20467200-20472400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr17:20467800-20468000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
10 | chr17:20468000-20472000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
11 | chr17:20470600-20471200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
12 | chr17:20470600-20471400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
13 | chr17:20470800-20471400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
14 | chr17:20471400-20471800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
15 | chr17:20471800-20472200 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
16 | chr17:20472000-20472200 | Enhancers | Fetal Muscle Leg | muscle |
17 | chr17:20472000-20472400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
18 | chr17:20472400-20472800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
19 | chr17:20472800-20492200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr17:20484600-20484800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
21 | chr17:20484800-20492200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |