Variant report
| Variant | esv3408683 |
|---|---|
| Chromosome Location | chr2:235136213-235136402 |
| 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 | chr2:235134989..235136667-chr2:235136969..235139077,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs569500649 | chr2:235136217-235136218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538139843 | chr2:235136220-235136221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs192400562 | chr2:235136250-235136251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568360050 | chr2:235136265-235136266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs111474201 | chr2:235136271-235136272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs369103407 | chr2:235136273-235136274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs36064803 | chr2:235136276-235136277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs560408011 | chr2:235136282-235136283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs543392823 | chr2:235136284-235136285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs553806371 | chr2:235136290-235136291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs541878647 | chr2:235136303-235136304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs35063896 | chr2:235136333-235136334 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs139905788 | chr2:235136334-235136335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs35556505 | chr2:235136337-235136338 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs575524180 | chr2:235136342-235136343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs544179496 | chr2:235136364-235136365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs560981891 | chr2:235136393-235136394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs574444934 | chr2:235136398-235136399 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Chordoma | 18071362 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Cancer | 22429812 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| prenatal diagnosis | 22389664 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Mental retardation | 20152051 | CNVD |
| Cancer | 21183584 | CNVD |
| Albright''s disease | 22277900 | CNVD |
| Brachydactyly-Mental Retardation Syndrome | 22470819 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Autism | 18414403 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:235130200-235138600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
