Variant report
| Variant | esv3395402 |
|---|---|
| Chromosome Location | chrX:74046980-74069464 |
| 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 | chrX:74055233..74056129-chrX:74823431..74824341,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs180901256 | chrX:74055812-74055813 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184811872 | chrX:74055830-74055831 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs189534030 | chrX:74055853-74055854 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| Disease | PMID | Source |
|---|---|---|
| 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 | 21364760 | CNVD |
| Premature ovarian failure | 20952765 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chrX:74055800-74056000 | Flanking Bivalent TSS/Enh | Lung | lung |
