Variant report
| Variant | nsv818998 |
|---|---|
| Chromosome Location | chr14:20528207-20539305 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:20530040..20532845-chr14:20547946..20550280,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs544051430 | chr14:20533010-20533011 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs147028575 | chr14:20533028-20533029 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs529798287 | chr14:20533063-20533064 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs138310746 | chr14:20533064-20533065 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs527298301 | chr14:20533090-20533091 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs149570189 | chr14:20533100-20533101 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73573578 | chr14:20533101-20533102 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs143288752 | chr14:20533130-20533131 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs549861511 | chr14:20533136-20533137 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs148335642 | chr14:20533146-20533147 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs536811285 | chr14:20533165-20533166 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs192610147 | chr14:20533173-20533174 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs114213927 | chr14:20533188-20533189 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs534227999 | chr14:20533244-20533245 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs558679005 | chr14:20533254-20533255 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs1952820 | chr14:20533275-20533276 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs544311674 | chr14:20533315-20533316 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs72669042 | chr14:20533319-20533320 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs372880603 | chr14:20533327-20533328 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs375505961 | chr14:20533353-20533354 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 20164920 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cone-rod dystrophy | 18421352 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Alzheimer''s disease | 21482944 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Heart disease | 21282601 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 17440070 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Epilepsy | 20736978 | CNVD |
| Mental retardation | 20736978 | CNVD |
| severe speech impairment | 20736978 | CNVD |
| speech impairment | 20736978 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:20533000-20533400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
