Variant report
| Variant | nsv819117 |
|---|---|
| Chromosome Location | chr14:85296936-85302122 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs114671611 | chr14:85299416-85299417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs557290406 | chr14:85299428-85299429 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs187547452 | chr14:85299439-85299440 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545581748 | chr14:85299485-85299486 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs117750981 | chr14:85299636-85299637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs572964206 | chr14:85299639-85299640 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs368312174 | chr14:85299738-85299739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs75779093 | chr14:85299769-85299770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs58306574 | chr14:85299778-85299779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540490019 | chr14:85299782-85299783 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs372526184 | chr14:85299839-85299840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs544251618 | chr14:85299851-85299852 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs561644835 | chr14:85299864-85299865 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs529195087 | chr14:85299873-85299874 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs544460405 | chr14:85299897-85299898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs375752058 | chr14:85299951-85299952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs191989671 | chr14:85299969-85299970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs533201761 | chr14:85299990-85299991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs200084330 | chr14:85300002-85300003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs570647505 | chr14:85300058-85300059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs139788759 | chr14:85300059-85300060 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs184207897 | chr14:85300060-85300061 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs12435029 | chr14:85300095-85300096 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs36121088 | chr14:85300138-85300139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs535786436 | chr14:85300151-85300152 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs141556735 | chr14:85300156-85300157 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs574631966 | chr14:85300159-85300160 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | 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 |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Glioblastoma multiforme | 21569311 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:85299400-85300200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
