Variant report
| Variant | esv1702111 |
|---|---|
| Chromosome Location | chr21:17732236-17732278 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370247039 | chr21:17732237-17732238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs374092943 | chr21:17732240-17732241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs58349824 | chr21:17732243-17732244 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs373943780 | chr21:17732246-17732247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs534762380 | chr21:17732252-17732253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs368088953 | chr21:17732253-17732254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548671683 | chr21:17732254-17732255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs367953433 | chr21:17732255-17732256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs375214285 | chr21:17732258-17732259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs368528543 | chr21:17732264-17732265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs57097433 | chr21:17732269-17732270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs371532837 | chr21:17732271-17732272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs375991124 | chr21:17732272-17732273 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs111220574 | chr21:17732276-17732277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Down syndrome | 17412756 | CNVD |
| Down syndrome | 17576883 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Seminomas | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Cancer | 20164919 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| abnormal development | 18461090 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Alzheimer''s disease | 18923514 | CNVD |
| Alzheimer''s disease | 20877625 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Alzheimer''s disease | 21956041 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Melanoma | 18172304 | CNVD |
| Autism | 22958593 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Epilepsy | 20502679 | CNVD |
| 22q11.2 microdeletion syndrome | 19750312 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Medullary thyroid carcinoma | 18765511 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:17725200-17735400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr21:17729400-17732600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr21:17730800-17733800 | Weak transcription | Primary hematopoietic stem cells | blood |
