Variant report
Variant | esv13547 |
---|---|
Chromosome Location | chr17:18289948-18305613 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:29)
- CpG islands (count:366)
- Chromatin interactive region (count:2)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BATF | chr17:18301531-18301764 | GM12878 | blood: | n/a | n/a |
2 | CTCF | chr17:18292241-18292244 | GM19238 | blood: | n/a | n/a |
3 | CTCF | chr17:18292185-18292311 | GM12891 | blood: | n/a | n/a |
4 | CTCF | chr17:18294495-18294593 | LNCaP | prostate: | n/a | n/a |
5 | CTCF | chr17:18294653-18294698 | GM19240 | blood: | n/a | n/a |
6 | CTCF | chr17:18299751-18299802 | GM10248 | blood: | n/a | n/a |
7 | CTCF | chr17:18292342-18292396 | GM12878 | blood: | n/a | n/a |
8 | CTCF | chr17:18297859-18297938 | Pancreas_OC | pancreas: | n/a | n/a |
9 | CTCF | chr17:18292246-18292302 | GM19238 | blood: | n/a | n/a |
10 | CTCF | chr17:18297461-18297539 | GM10248 | blood: | n/a | chr17:18297501-18297509 |
11 | CTCF | chr17:18292261-18292348 | GM10266 | blood: | n/a | n/a |
12 | CTCF | chr17:18292251-18292257 | Spleen_OC | spleen: | n/a | n/a |
13 | CTCF | chr17:18305372-18305443 | NHEK | skin: | n/a | n/a |
14 | FOSL2 | chr17:18296942-18297173 | HepG2 | liver: | n/a | n/a |
15 | FOSL2 | chr17:18298583-18298985 | HepG2 | liver: | n/a | n/a |
16 | FOSL2 | chr17:18297790-18298166 | HepG2 | liver: | n/a | n/a |
17 | FOSL2 | chr17:18302835-18303033 | HepG2 | liver: | n/a | n/a |
18 | GABPA | chr17:18295096-18295237 | Hela-S3 | cervix: | n/a | n/a |
19 | GABPA | chr17:18300658-18300874 | Hela-S3 | cervix: | n/a | n/a |
20 | PAX5 | chr17:18299738-18299983 | GM12878 | blood: | n/a | n/a |
21 | POLR2A | chr17:18302169-18302275 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | POLR2A | chr17:18290696-18291003 | GM12878 | blood: | n/a | n/a |
23 | POLR2A | chr17:18294080-18294090 | K562 | blood: | n/a | n/a |
24 | REST | chr17:18302052-18302358 | PANC-1 | pancreas: | n/a | chr17:18302263-18302276 chr17:18302248-18302261 |
25 | REST | chr17:18297350-18297613 | H1-hESC | embryonic stem cell: | n/a | chr17:18297493-18297502 |
26 | SPI1 | chr17:18292104-18292321 | GM12878 | blood: | n/a | n/a |
27 | SPI1 | chr17:18292126-18292292 | GM12878 | blood: | n/a | n/a |
28 | SPI1 | chr17:18292005-18292411 | GM12891 | blood: | n/a | n/a |
29 | SPI1 | chr17:18292011-18292340 | GM12891 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18295503-18295553 | HNPCEpiC | eye: | n/a |
2 | chr17:18290668-18290718 | HL-60 | blood: | n/a |
3 | chr17:18290668-18290718 | NHDF-neo | bronchial: | n/a |
4 | chr17:18290668-18290718 | HEK293 | kidney: | embryo |
5 | chr17:18291699-18291749 | HRPEpiC | eye: | n/a |
6 | chr17:18302510-18302560 | HepG2 | liver: | n/a |
7 | chr17:18305305-18305355 | SAEC | small airway: | n/a |
8 | chr17:18305305-18305355 | NH-A | brain: | n/a |
9 | chr17:18305305-18305355 | SK-N-MC | brain: | n/a |
10 | chr17:18295503-18295553 | NT2-D1 | testis: | n/a |
11 | chr17:18291699-18291749 | HepG2 | liver: | n/a |
12 | chr17:18295431-18295481 | ECC-1 | luminal epithelium: | n/a |
13 | chr17:18291699-18291749 | HMEC | breast: | n/a |
14 | chr17:18295431-18295481 | H1-hESC | embryonic stem cell: | embryo |
15 | chr17:18290668-18290718 | PANC-1 | pancreas: | n/a |
16 | chr17:18290668-18290718 | GM19239 | blood: | n/a |
17 | chr17:18290668-18290718 | U87 | brain: | n/a |
18 | chr17:18295431-18295481 | HCM | heart: | n/a |
19 | chr17:18302510-18302560 | GM12891 | blood: | n/a |
20 | chr17:18291699-18291749 | GM19239 | blood: | n/a |
21 | chr17:18295431-18295481 | HRPEpiC | eye: | n/a |
22 | chr17:18302510-18302560 | HCT-116 | colon: | n/a |
23 | chr17:18290668-18290718 | HAEpiC | amniotic membrane: | n/a |
24 | chr17:18290668-18290718 | NH-A | brain: | n/a |
25 | chr17:18305305-18305355 | Caco-2 | colon: | n/a |
26 | chr17:18305305-18305355 | HEEpiC | esophagus: | n/a |
27 | chr17:18302510-18302560 | AG04449 | skin: | fetal |
28 | chr17:18295503-18295553 | T-47D | breast: | n/a |
29 | chr17:18290668-18290718 | AG09319 | gingival: | n/a |
30 | chr17:18291699-18291749 | LNCaP | prostate: | n/a |
31 | chr17:18290668-18290718 | ECC-1 | luminal epithelium: | n/a |
32 | chr17:18295431-18295481 | T-47D | breast: | n/a |
33 | chr17:18295503-18295553 | GM19239 | blood: | n/a |
34 | chr17:18295431-18295481 | ProgFib | skin: | n/a |
35 | chr17:18302510-18302560 | LNCaP | prostate: | n/a |
36 | chr17:18295503-18295553 | HIPEpiC | eye: | n/a |
37 | chr17:18290668-18290718 | Hepatocyte | liver: | n/a |
38 | chr17:18302510-18302560 | NH-A | brain: | n/a |
39 | chr17:18305305-18305355 | ProgFib | skin: | n/a |
40 | chr17:18291699-18291749 | GM12878 | blood: | n/a |
41 | chr17:18291699-18291749 | HEK293 | kidney: | embryo |
42 | chr17:18295503-18295553 | GM06990 | blood: | n/a |
43 | chr17:18295503-18295553 | CMK | blood: | n/a |
44 | chr17:18305305-18305355 | AG10803 | skin: | n/a |
45 | chr17:18302510-18302560 | Hela-S3 | cervix: | n/a |
46 | chr17:18291699-18291749 | GM12891 | blood: | n/a |
47 | chr17:18305305-18305355 | LNCaP | prostate: | n/a |
48 | chr17:18290668-18290718 | HepG2 | liver: | n/a |
49 | chr17:18295431-18295481 | PrEC | prostate: | n/a |
50 | chr17:18305305-18305355 | HepG2 | liver: | n/a |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AL353997.1-1 | chr17:18292171-18292691 | NONHSAT146194 |
2 | lnc-AL353997.1-1 | chr17:18291533-18291602 | NONHSAT146194 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000267441 | TF binding region |
TBC1D3P4 | TF binding region |
ENSG00000264177 | TF binding region |
ENSG00000267441 | CpG island |
TBC1D3P4 | CpG island |
ENSG00000264177 | CpG island |
ENSG00000263946 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs34778621 | chr17:18289948-18289949 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs7222951 | chr17:18289949-18289950 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
3 | rs7221741 | chr17:18289956-18289957 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
4 | rs546747520 | chr17:18290034-18290035 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs185801515 | chr17:18290056-18290057 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs372308533 | chr17:18290076-18290077 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs36099889 | chr17:18290088-18290089 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs371923431 | chr17:18290094-18290095 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs549252697 | chr17:18290101-18290102 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs7222335 | chr17:18290115-18290116 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
11 | rs538237843 | chr17:18290118-18290119 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs557909284 | chr17:18290149-18290150 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs540321905 | chr17:18290209-18290210 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs60131387 | chr17:18290225-18290226 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs571674929 | chr17:18290265-18290266 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs57006411 | chr17:18290278-18290279 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
17 | rs553983000 | chr17:18290293-18290294 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs7222239 | chr17:18290295-18290296 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
19 | rs192313259 | chr17:18290318-18290319 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs111785911 | chr17:18290351-18290352 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs113417707 | chr17:18290358-18290359 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs35980776 | chr17:18290386-18290387 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs138322486 | chr17:18290407-18290408 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs542876210 | chr17:18290411-18290412 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs36040105 | chr17:18290412-18290413 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
26 | rs35379927 | chr17:18290435-18290436 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
27 | rs58952800 | chr17:18290442-18290443 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
28 | rs564732828 | chr17:18290443-18290444 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs527330722 | chr17:18290448-18290449 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs200023012 | chr17:18290449-18290450 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs59654922 | chr17:18290459-18290460 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
32 | rs57015188 | chr17:18290465-18290466 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs529427168 | chr17:18290567-18290568 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs370290640 | chr17:18290597-18290598 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs376472758 | chr17:18290620-18290621 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs569527346 | chr17:18290668-18290669 | Inactive region | CpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs373191541 | chr17:18290669-18290670 | Inactive region | CpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs34769815 | chr17:18290670-18290671 | Inactive region | CpG islandChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
39 | rs35418981 | chr17:18290687-18290688 | Inactive region | CpG islandChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
40 | rs372913454 | chr17:18290700-18290701 | Inactive region | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs374435432 | chr17:18290707-18290708 | Inactive region | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs552422323 | chr17:18290718-18290719 | Inactive region | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs571575211 | chr17:18290734-18290735 | Inactive region | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs34122488 | chr17:18290747-18290748 | Inactive region | TF binding regionChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
45 | rs183568602 | chr17:18290809-18290810 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs112206293 | chr17:18290810-18290811 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs140975851 | chr17:18290819-18290820 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs34188196 | chr17:18290845-18290846 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs59007656 | chr17:18290856-18290857 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs377427511 | chr17:18290857-18290858 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | 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 |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Urothelial carcinoma | 21177765 | 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 |
Acute myeloid leukemia | 17237825 | 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 |
Adenoid cystic carcinoma | 18332873 | CNVD |
Colorectal cancer | 16774939 | 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 |
Ovarian cancer | 21720365 | CNVD |
Acute lymphoblastic leukemia | 21339820 | 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 |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Autism | 22543975 | CNVD |
Ovarian cancer | 22355333 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Recurrent pregnancy loss | 19789632 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:18287800-18290000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr17:18290800-18291400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr17:18291600-18292200 | Enhancers | Primary monocytes fromperipheralblood | blood |
4 | chr17:18291600-18292200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
5 | chr17:18291600-18292200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
6 | chr17:18291600-18292600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
7 | chr17:18291800-18292000 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
8 | chr17:18291800-18292200 | Enhancers | Primary B cells from peripheral blood | blood |
9 | chr17:18291800-18292200 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
10 | chr17:18291800-18293600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
11 | chr17:18292200-18292600 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
12 | chr17:18292200-18294400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
13 | chr17:18292600-18293200 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
14 | chr17:18292600-18293400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr17:18293000-18293400 | Enhancers | Primary T helper cells fromperipheralblood | blood |
16 | chr17:18293400-18293600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
17 | chr17:18293400-18293600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
18 | chr17:18293400-18293600 | Enhancers | Fetal Muscle Trunk | muscle |
19 | chr17:18294400-18294600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |