Variant report
| Variant | esv3492345 |
|---|---|
| Chromosome Location | chr9:85846046-85846239 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr9:85844452..85846497-chr9:85849504..85852357,2 | MCF-7 | breast: | |
| 2 | chr9:85834195..85835447-chr9:85845781..85847161,9 | MCF-7 | breast: | |
| 3 | chr9:85844753..85847059-chr9:86151507..86153223,2 | MCF-7 | breast: | |
| 4 | chr9:85814102..85814822-chr9:85845756..85846542,4 | MCF-7 | breast: | |
| 5 | chr9:85845841..85846435-chr9:85856985..85857600,2 | MCF-7 | breast: | |
| 6 | chr9:85834296..85835171-chr9:85845740..85846677,8 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000229109 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs117490460 | chr9:85846118-85846119 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs201315616 | chr9:85846164-85846165 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs200162366 | chr9:85846168-85846169 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs201176837 | chr9:85846169-85846170 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs546882359 | chr9:85846178-85846179 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs571656976 | chr9:85846190-85846191 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs187246532 | chr9:85846217-85846218 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs557112441 | chr9:85846228-85846229 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs575611612 | chr9:85846229-85846230 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 18172304 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Leukemia | 17361228 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Leukemia | 18688285 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Brain cancer | 20823417 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Heart disease | 21282601 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:85844200-85850600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr9:85845400-85846800 | Enhancers | Fetal Heart | heart |
| 3 | chr9:85845400-85846800 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 4 | chr9:85845600-85846800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
| 5 | chr9:85845800-85846600 | Enhancers | Fetal Muscle Leg | muscle |
| 6 | chr9:85846000-85846600 | Enhancers | Placenta | Placenta |
| 7 | chr9:85846200-85846400 | Enhancers | Pancreas | Pancrea |
| 8 | chr9:85846200-85846600 | Enhancers | Left Ventricle | heart |
| 9 | chr9:85846200-85846600 | Enhancers | Psoas Muscle | Psoas |
