Variant report
| Variant | nsv419530 |
|---|---|
| Chromosome Location | chrX:73566450-73566451 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000226515 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10577683 | chrX:73566450-73566451 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:47)
| Disease | PMID | Source |
|---|---|---|
| Intellectual disability | 23615299 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Schizophrenia | 23904455 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| infertile | 22614455 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20581869 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Seminomas | 18059402 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 16751803 | CNVD |
| Mental retardation | 20877625 | CNVD |
| brachycephaly | 20877625 | CNVD |
| epicanthic folds | 20877625 | CNVD |
| Lujan-Fryns syndrom | 21572526 | CNVD |
| Opitz-Kaveggia syndrome | 21572526 | CNVD |
| Cerebellar atrophy | 21569638 | CNVD |
| X-linked sideroblastic anemia | 21569638 | CNVD |
| Mental retardation | 21572526 | CNVD |
| ATR-X Syndrome | 22470819 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chrX:73563600-73568800 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 2 | chrX:73565200-73566600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 3 | chrX:73565400-73566600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 4 | chrX:73565600-73566600 | Enhancers | Primary hematopoietic stem cells | blood |
| 5 | chrX:73566200-73569000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
