Variant report
| Variant | esv3355204 |
|---|---|
| Chromosome Location | chrX:56751177-56753625 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:189)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000204272 | TF binding region |
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 | rs183175370 | chrX:56752705-56752706 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs57180538 | chrX:56752847-56752848 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs7876419 | chrX:56752855-56752856 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs78524489 | chrX:56752921-56752922 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs201972787 | chrX:56753038-56753039 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs111760660 | chrX:56753040-56753041 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs66764349 | chrX:56753041-56753042 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs141724485 | chrX:56753044-56753045 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs187505494 | chrX:56753070-56753071 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs73626217 | chrX:56753077-56753078 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs147906437 | chrX:56753106-56753107 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs141537253 | chrX:56753115-56753116 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs373284782 | chrX:56753141-56753142 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs191866439 | chrX:56753176-56753177 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs5914776 | chrX:56753179-56753180 | Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs182613399 | chrX:56753188-56753189 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs572101456 | chrX:56753275-56753276 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs73494903 | chrX:56753293-56753294 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs545967119 | chrX:56753538-56753539 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs374974302 | chrX:56753604-56753605 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:41)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 23615299 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Burkitt''s lymphoma | 20823134 | 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 |
| Intellectual disability | 22102821 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Cancer | 20581869 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 20164919 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Seminomas | 18059402 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Ovarian cancer | 19835627 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Alcoholism | 21790672 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chrX:56752800-56755200 | Enhancers | Liver | Liver |
| 2 | chrX:56753200-56753400 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
| 3 | chrX:56753200-56753400 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
| 4 | chrX:56753200-56753600 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
| 5 | chrX:56753200-56754600 | Enhancers | Dnd41 | blood |
| 6 | chrX:56753400-56754400 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
| 7 | chrX:56753400-56754800 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
| 8 | chrX:56753600-56755000 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
