Variant report
| Variant | esv3392737 |
|---|---|
| Chromosome Location | chr2:10625542-10625824 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:9 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:10586988..10590603-chr2:10624650..10627207,3 | MCF-7 | breast: | |
| 2 | chr2:10621871..10623712-chr2:10624023..10626018,2 | K562 | blood: | |
| 3 | chr2:10623445..10625736-chr2:10807229..10809544,2 | MCF-7 | breast: | |
| 4 | chr2:10618429..10620949-chr2:10623572..10626287,3 | K562 | blood: | |
| 5 | chr2:10618413..10620136-chr2:10624862..10627397,2 | MCF-7 | breast: | |
| 6 | chr2:10587667..10590278-chr2:10623574..10626522,2 | K562 | blood: | |
| 7 | chr2:10600545..10602902-chr2:10625810..10627729,2 | MCF-7 | breast: | |
| 8 | chr2:10586852..10590278-chr2:10623113..10626548,4 | K562 | blood: | |
| 9 | chr2:10610764..10614840-chr2:10622811..10625780,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000115758 | chromatin interactions |
| ENSG00000206633 | chromatin interactions |
| ENSG00000257135 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs555519472 | chr2:10625546-10625547 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 2 | rs567652916 | chr2:10625594-10625595 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 3 | rs371225521 | chr2:10625623-10625624 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 4 | rs6760641 | chr2:10625690-10625691 | Weak transcription | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs148645651 | chr2:10625766-10625767 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 6 | rs578205578 | chr2:10625797-10625798 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 7 | rs545642308 | chr2:10625821-10625822 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Cancer | 20164920 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 16751803 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ependymoma | 16718352 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Breast cancer | 21804112 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Glioma | 17123091 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:10619400-10636000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr2:10622600-10626800 | Weak transcription | Pancreas | Pancrea |
| 3 | chr2:10623800-10626600 | Weak transcription | Fetal Intestine Large | intestine |
| 4 | chr2:10623800-10626600 | Weak transcription | Fetal Intestine Small | intestine |
