Variant report
| Variant | esv3377414 |
|---|---|
| Chromosome Location | chr21:14347710-14347898 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs199876010 | chr21:14347721-14347722 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs200890902 | chr21:14347743-14347744 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs538193122 | chr21:14347744-14347745 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs202063282 | chr21:14347747-14347748 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557742669 | chr21:14347764-14347765 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs571234240 | chr21:14347772-14347773 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs455411 | chr21:14347776-14347777 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs148725354 | chr21:14347813-14347814 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs111658642 | chr21:14347826-14347827 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs62223184 | chr21:14347830-14347831 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145230823 | chr21:14347831-14347832 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs553806968 | chr21:14347841-14347842 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs62223185 | chr21:14347844-14347845 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112308593 | chr21:14347845-14347846 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573687457 | chr21:14347846-14347847 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs377036784 | chr21:14347847-14347848 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs542802945 | chr21:14347858-14347859 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs75420008 | chr21:14347860-14347861 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs556385915 | chr21:14347867-14347868 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs75763411 | chr21:14347883-14347884 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:49)
| 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 |
| Sudden cardiac death | 19188705 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21509527 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Congenital abnormalities | 21549014 | CNVD |
| Developmental delay | 21549014 | CNVD |
| Mental retardation | 21549014 | 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 |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Autism | 18414403 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:14338200-14351800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 2 | chr21:14338200-14363600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 3 | chr21:14338800-14350800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr21:14339400-14359000 | Weak transcription | K562 | blood |
| 5 | chr21:14347400-14348200 | ZNF genes & repeats | HUVEC | blood vessel |
| 6 | chr21:14347600-14348000 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 7 | chr21:14347600-14348200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 8 | chr21:14347600-14348400 | ZNF genes & repeats | HepG2 | liver |
