Variant report
| Variant | esv1767516 |
|---|---|
| Chromosome Location | chr21:16743245-16743246 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:16437416..16439848-chr21:16743121..16745374,3 | MCF-7 | breast: | |
| 2 | chr21:16742966..16743867-chr21:16816332..16816950,2 | MCF-7 | breast: | |
| 3 | chr21:16732191..16734558-chr21:16742882..16744836,2 | MCF-7 | breast: | |
| 4 | chr21:16742888..16745845-chr21:16814324..16816904,2 | MCF-7 | breast: | |
| 5 | chr21:16714501..16715255-chr21:16742984..16743509,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000236471 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35541448 | chr21:16743245-16743246 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs398036087 | chr21:16743246-16743247 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| 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 | 22522925 | CNVD |
| Breast cancer | 20409316 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:16738600-16747600 | Weak transcription | Primary hematopoietic stem cells | blood |
| 2 | chr21:16740800-16743400 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr21:16742600-16743400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr21:16742600-16743600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 5 | chr21:16742800-16743400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 6 | chr21:16742800-16745000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
