Variant report
Variant | esv20106 |
---|---|
Chromosome Location | chr17:20442506-20446617 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:71)
- CpG islands (count:122)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BATF | chr17:20443708-20444186 | GM12878 | blood: | n/a | n/a |
2 | BATF | chr17:20443556-20444223 | GM12878 | blood: | n/a | n/a |
3 | BCL11A | chr17:20443676-20444145 | GM12878 | blood: | n/a | n/a |
4 | BCL11A | chr17:20443777-20444111 | GM12878 | blood: | n/a | n/a |
5 | CTCF | chr17:20445637-20445731 | Fibrobl | skin: | n/a | n/a |
6 | CTCF | chr17:20445622-20445689 | GM12878 | blood: | n/a | n/a |
7 | CTCF | chr17:20445580-20445730 | HMEC | breast: | n/a | n/a |
8 | CTCF | chr17:20445589-20445738 | LNCaP | prostate: | n/a | n/a |
9 | CTCF | chr17:20445560-20445710 | AG10803 | skin: | n/a | n/a |
10 | CTCF | chr17:20445620-20445770 | AG10803 | skin: | n/a | n/a |
11 | CTCF | chr17:20445558-20445726 | T-47D | breast: | n/a | n/a |
12 | CTCF | chr17:20445520-20445670 | HMEC | breast: | n/a | n/a |
13 | CTCF | chr17:20445580-20445730 | Caco-2 | colon: | n/a | n/a |
14 | CTCF | chr17:20445560-20445710 | HRPEpiC | eye: | n/a | n/a |
15 | CTCF | chr17:20445593-20445750 | NHEK | skin: | n/a | n/a |
16 | CTCF | chr17:20445610-20445723 | MCF-7 | breast: | n/a | n/a |
17 | CTCF | chr17:20445632-20445687 | Hela-S3 | cervix: | n/a | n/a |
18 | CTCF | chr17:20445642-20445704 | GM10266 | blood: | n/a | n/a |
19 | CTCF | chr17:20445604-20445730 | MCF-7 | breast: | n/a | n/a |
20 | CTCF | chr17:20445620-20445770 | AG09319 | gingival: | n/a | n/a |
21 | CTCF | chr17:20445580-20445730 | AG09319 | gingival: | n/a | n/a |
22 | CTCF | chr17:20445580-20445730 | SAEC | small airway: | n/a | n/a |
23 | CTCF | chr17:20445599-20445741 | ProgFib | skin: | n/a | n/a |
24 | CTCF | chr17:20445580-20445730 | HEEpiC | esophagus: | n/a | n/a |
25 | CTCF | chr17:20445580-20445730 | AG09309 | skin: | n/a | n/a |
26 | CTCF | chr17:20445654-20445703 | LNCaP | prostate: | n/a | n/a |
27 | CTCF | chr17:20445560-20445710 | AG04449 | skin: | n/a | n/a |
28 | CTCF | chr17:20445600-20445750 | MCF-7 | breast: | n/a | n/a |
29 | CTCF | chr17:20445558-20445742 | Pancreas_OC | pancreas: | n/a | n/a |
30 | EBF1 | chr17:20443620-20444226 | GM12878 | blood: | n/a | chr17:20444093-20444102 chr17:20444093-20444103 |
31 | EBF1 | chr17:20443599-20444220 | GM12878 | blood: | n/a | chr17:20444093-20444102 chr17:20444093-20444103 |
32 | EP300 | chr17:20444145-20444524 | T-47D | breast: | n/a | n/a |
33 | EP300 | chr17:20443863-20444125 | GM12878 | blood: | n/a | n/a |
34 | FOXA1 | chr17:20445123-20445312 | T-47D | breast: | n/a | n/a |
35 | FOXA1 | chr17:20444181-20444516 | T-47D | breast: | n/a | n/a |
36 | FOXA1 | chr17:20445087-20445435 | T-47D | breast: | n/a | n/a |
37 | FOXA1 | chr17:20444156-20444512 | T-47D | breast: | n/a | n/a |
38 | FOXM1 | chr17:20443589-20444290 | GM12878 | blood: | n/a | n/a |
39 | FOXM1 | chr17:20443701-20444186 | GM12878 | blood: | n/a | n/a |
40 | FOXP2 | chr17:20444251-20444474 | SK-N-MC | brain: | n/a | n/a |
41 | GATA3 | chr17:20444072-20444525 | T-47D | breast: | n/a | n/a |
42 | GATA3 | chr17:20444085-20444523 | T-47D | breast: | n/a | n/a |
43 | IRF4 | chr17:20443702-20444299 | GM12878 | blood: | n/a | n/a |
44 | IRF4 | chr17:20443728-20444404 | GM12878 | blood: | n/a | n/a |
45 | MAX | chr17:20445604-20445804 | NB4 | blood: | n/a | n/a |
46 | MYC | chr17:20445630-20445647 | NB4 | blood: | n/a | n/a |
47 | MYC | chr17:20445697-20445802 | MCF10A-Er-Src | breast: | n/a | n/a |
48 | NFIC | chr17:20443624-20444215 | GM12878 | blood: | n/a | n/a |
49 | PAX5 | chr17:20443544-20444367 | GM12878 | blood: | n/a | n/a |
50 | PAX5 | chr17:20443774-20444060 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20446526-20446576 | HCT-116 | colon: | n/a |
2 | chr17:20445757-20445807 | HIPEpiC | eye: | n/a |
3 | chr17:20445757-20445807 | A549 | lung: | n/a |
4 | chr17:20445757-20445807 | BE2_C | brain: | n/a |
5 | chr17:20445757-20445807 | HepG2 | liver: | n/a |
6 | chr17:20445757-20445807 | HCF | heart: | n/a |
7 | chr17:20445757-20445807 | NHDF-neo | bronchial: | n/a |
8 | chr17:20446526-20446576 | HPAEpiC | pulmonary alveolar: | n/a |
9 | chr17:20446526-20446576 | AG10803 | skin: | n/a |
10 | chr17:20445757-20445807 | IMR90 | lung: | fetal |
11 | chr17:20445757-20445807 | HRPEpiC | eye: | n/a |
12 | chr17:20445757-20445807 | SK-N-SH_RA | brain: | n/a |
13 | chr17:20445757-20445807 | BJ | skin: | n/a |
14 | chr17:20446526-20446576 | K562 | blood: | n/a |
15 | chr17:20445757-20445807 | GM12891 | blood: | n/a |
16 | chr17:20446526-20446576 | NHBE | bronchial: | n/a |
17 | chr17:20446526-20446576 | RPTEC | kidney: | n/a |
18 | chr17:20445757-20445807 | U87 | brain: | n/a |
19 | chr17:20445757-20445807 | SK-N-MC | brain: | n/a |
20 | chr17:20446526-20446576 | HNPCEpiC | eye: | n/a |
21 | chr17:20446526-20446576 | CMK | blood: | n/a |
22 | chr17:20445757-20445807 | AoSMC | blood vessel: | n/a |
23 | chr17:20445757-20445807 | ovcar-3 | ovarian: | n/a |
24 | chr17:20445757-20445807 | HMEC | breast: | n/a |
25 | chr17:20446526-20446576 | BJ | skin: | n/a |
26 | chr17:20445757-20445807 | MCF10A-Er-Src | breast: | n/a |
27 | chr17:20446526-20446576 | HIPEpiC | eye: | n/a |
28 | chr17:20446526-20446576 | NB4 | blood: | n/a |
29 | chr17:20446526-20446576 | MCF-7 | breast: | n/a |
30 | chr17:20446526-20446576 | AG04449 | skin: | fetal |
31 | chr17:20446526-20446576 | HCPEpiC | choroid plexus: | n/a |
32 | chr17:20445757-20445807 | H1-hESC | embryonic stem cell: | embryo |
33 | chr17:20445757-20445807 | HCM | heart: | n/a |
34 | chr17:20446526-20446576 | HAEpiC | amniotic membrane: | n/a |
35 | chr17:20446526-20446576 | GM19239 | blood: | n/a |
36 | chr17:20446526-20446576 | T-47D | breast: | n/a |
37 | chr17:20445757-20445807 | HEK293 | kidney: | embryo |
38 | chr17:20445757-20445807 | RPTEC | kidney: | n/a |
39 | chr17:20445757-20445807 | HL-60 | blood: | n/a |
40 | chr17:20446526-20446576 | AoSMC | blood vessel: | n/a |
41 | chr17:20445757-20445807 | PrEC | prostate: | n/a |
42 | chr17:20446526-20446576 | Hela-S3 | cervix: | n/a |
43 | chr17:20445757-20445807 | CMK | blood: | n/a |
44 | chr17:20445757-20445807 | GM12892 | blood: | n/a |
45 | chr17:20445757-20445807 | PFSK-1 | brain: | n/a |
46 | chr17:20446526-20446576 | PFSK-1 | brain: | n/a |
47 | chr17:20446526-20446576 | HL-60 | blood: | n/a |
48 | chr17:20446526-20446576 | ovcar-3 | ovarian: | n/a |
49 | chr17:20446526-20446576 | AG09319 | gingival: | n/a |
50 | chr17:20446526-20446576 | HEK293 | kidney: | embryo |
No data |
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1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LGALS9B-12 | chr17:20446287-20446510 | NONHSAT146601 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000267075 | TF binding region |
ENSG00000267075 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs373928508 | chr17:20442536-20442537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs377199095 | chr17:20442569-20442570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs548269006 | chr17:20442658-20442659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs566505857 | chr17:20442675-20442676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs370375731 | chr17:20442733-20442734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs2948622 | chr17:20442739-20442740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs2948621 | chr17:20442741-20442742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs534008776 | chr17:20442762-20442763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs147653106 | chr17:20442801-20442802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs2955829 | chr17:20442867-20442868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs79702832 | chr17:20442883-20442884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs80092721 | chr17:20442887-20442888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs113341590 | chr17:20442891-20442892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs111782729 | chr17:20442895-20442896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs77253872 | chr17:20442899-20442900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs552161204 | chr17:20442937-20442938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs71258590 | chr17:20442964-20442965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs570393974 | chr17:20442969-20442970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs537785988 | chr17:20443039-20443040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs556129865 | chr17:20443049-20443050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs574539797 | chr17:20443050-20443051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs560011470 | chr17:20443064-20443065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs535533196 | chr17:20443065-20443066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557652840 | chr17:20443108-20443109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs372736910 | chr17:20443115-20443116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs62068050 | chr17:20443117-20443118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs199690330 | chr17:20443124-20443125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs76166261 | chr17:20443132-20443133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs75928315 | chr17:20443133-20443134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs188673159 | chr17:20443134-20443135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs2955830 | chr17:20443155-20443156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs544172013 | chr17:20443160-20443161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs149669514 | chr17:20443165-20443166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs562418841 | chr17:20443166-20443167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs529700460 | chr17:20443191-20443192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs11489017 | chr17:20443202-20443203 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs201204693 | chr17:20443203-20443204 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs528755496 | chr17:20443253-20443254 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs34325703 | chr17:20443263-20443264 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs112924857 | chr17:20443324-20443325 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs368072332 | chr17:20443382-20443383 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs560216562 | chr17:20443409-20443410 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs527424761 | chr17:20443420-20443421 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs552336283 | chr17:20443506-20443507 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs570353363 | chr17:20443538-20443539 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs200411136 | chr17:20443569-20443570 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs531501768 | chr17:20443752-20443753 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs549669509 | chr17:20443861-20443862 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs568075418 | chr17:20443862-20443863 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs137928291 | chr17:20443908-20443909 | Enhancers Weak transcription | TF binding region | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:20437000-20445200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
2 | chr17:20437200-20445200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
3 | chr17:20438000-20444200 | Weak transcription | Fetal Thymus | thymus |
4 | chr17:20439000-20444200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
5 | chr17:20443200-20445800 | Enhancers | Primary B cells from peripheral blood | blood |
6 | chr17:20444200-20444400 | Enhancers | Primary hematopoietic stem cells | blood |
7 | chr17:20444200-20444400 | Enhancers | Rectal Mucosa Donor 29 | rectum |
8 | chr17:20444200-20445400 | Enhancers | Fetal Thymus | thymus |
9 | chr17:20444200-20445600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
10 | chr17:20444200-20445800 | Enhancers | Primary monocytes fromperipheralblood | blood |
11 | chr17:20444200-20445800 | Enhancers | GM12878-XiMat | blood |
12 | chr17:20444400-20445200 | Weak transcription | Primary hematopoietic stem cells | blood |
13 | chr17:20444400-20445200 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
14 | chr17:20445200-20445600 | Enhancers | Primary hematopoietic stem cells | blood |
15 | chr17:20445200-20445600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
16 | chr17:20445200-20445600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
17 | chr17:20445200-20445600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
18 | chr17:20445200-20445600 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
19 | chr17:20445200-20445600 | Enhancers | Rectal Mucosa Donor 29 | rectum |
20 | chr17:20445200-20445800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
21 | chr17:20445400-20445800 | Enhancers | Rectal Mucosa Donor 31 | rectum |
22 | chr17:20445400-20445800 | Enhancers | NHDF-Ad | bronchial |