Variant report
| Variant | nsv520064 |
|---|---|
| Chromosome Location | chr16:65286870-65287388 |
| 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 | chr16:65284590..65286307-chr16:65286570..65288207,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7194801 | chr16:65286870-65286871 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs543393237 | chr16:65287013-65287014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs35514197 | chr16:65287132-65287133 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs528342404 | chr16:65287178-65287179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs542031491 | chr16:65287225-65287226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs76117821 | chr16:65287273-65287274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs530604915 | chr16:65287281-65287282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs137994611 | chr16:65287301-65287302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs187770933 | chr16:65287324-65287325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs532380463 | chr16:65287360-65287361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs370149267 | chr16:65287369-65287370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs192500911 | chr16:65287387-65287388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs12923125 | chr16:65287388-65287389 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:72)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Thoracic aortic aneurysm | 21092924 | 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Autism | 18414403 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Chordoma | 18071362 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Leiomyosarcoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Infiltrating lobular breast cancer | 19191266 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:65284200-65291600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr16:65286000-65287200 | Weak transcription | Stomach Mucosa | stomach |
