Variant report
| Variant | esv3329125 |
|---|---|
| Chromosome Location | chr2:67855920-67856146 |
| 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 | chr2:67624303..67625839-chr2:67853938..67856689,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000143971 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:14 , 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 | rs575507713 | chr2:67855920-67855921 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs559533497 | chr2:67855928-67855929 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs544487327 | chr2:67855941-67855942 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs531194625 | chr2:67855975-67855976 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs2861701 | chr2:67855980-67855981 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs2861702 | chr2:67856002-67856003 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs564827977 | chr2:67856013-67856014 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs147412397 | chr2:67856051-67856052 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs532064178 | chr2:67856062-67856063 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs552159830 | chr2:67856066-67856067 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs191966108 | chr2:67856075-67856076 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs538552208 | chr2:67856125-67856126 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs548453475 | chr2:67856127-67856128 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs183783158 | chr2:67856133-67856134 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cancer | 21183584 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:67854600-67860000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr2:67854600-67860200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr2:67856000-67856200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
