Variant report
| Variant | nsv84428 |
|---|---|
| Chromosome Location | chr14:22294667-22298312 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | STAT3 | chr14:22295416-22295596 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:22295303..22297076-chr14:22298582..22300710,2 | K562 | blood: |
(count:2 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-OR4E2-2 | chr14:22297692-22297743 | NONHSAT035707 |
| 2 | lnc-OR4E2-2 | chr14:22297937-22298223 | NONHSAT035707 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| TRAV11 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs180892358 | chr14:22295466-22295467 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs373839253 | chr14:22295501-22295502 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs11850166 | chr14:22297693-22297694 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs549118515 | chr14:22297694-22297695 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs566017571 | chr14:22298018-22298019 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs543989313 | chr14:22298035-22298036 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs142899598 | chr14:22298056-22298057 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs111461377 | chr14:22298057-22298058 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs143277237 | chr14:22298066-22298067 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 10 | rs535386726 | chr14:22298067-22298068 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 11 | rs548416317 | chr14:22298072-22298073 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 12 | rs33962716 | chr14:22298078-22298079 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs537214390 | chr14:22298179-22298180 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 14 | rs192069592 | chr14:22298211-22298212 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
