Variant report
| Variant | esv3399781 |
|---|---|
| Chromosome Location | chr16:47033076-47035624 |
| 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 | chr16:47028457..47030859-chr16:47032661..47034314,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 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 | rs187179527 | chr16:47035207-47035208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs1894886 | chr16:47035244-47035245 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs555704138 | chr16:47035364-47035365 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs71380311 | chr16:47035369-47035370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs147119003 | chr16:47035373-47035374 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs34717788 | chr16:47035411-47035412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs541310365 | chr16:47035440-47035441 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs192272270 | chr16:47035491-47035492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577519376 | chr16:47035522-47035523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs544764865 | chr16:47035602-47035603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | 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 |
| Renal cell carcinoma | 18765545 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:47035200-47035800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr16:47035200-47035800 | Enhancers | HepG2 | liver |
