Variant report
| Variant | esv3458454 |
|---|---|
| Chromosome Location | chr2:142788874-142789117 |
| 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 | chr2:142781371..142784151-chr2:142786704..142789682,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:20 , 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 | rs2060591 | chr2:142788893-142788894 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs560363480 | chr2:142788899-142788900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs376743214 | chr2:142788900-142788901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200789595 | chr2:142788902-142788903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs2029143 | chr2:142788903-142788904 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs527872126 | chr2:142788904-142788905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs542232808 | chr2:142788905-142788906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201177357 | chr2:142788906-142788907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs199678560 | chr2:142788907-142788908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs3041462 | chr2:142788917-142788918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs561900694 | chr2:142788946-142788947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs13032654 | chr2:142788948-142788949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs13009553 | chr2:142788954-142788955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs113109381 | chr2:142788959-142788960 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs550923483 | chr2:142789039-142789040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs537248943 | chr2:142789053-142789054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs564369979 | chr2:142789054-142789055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs10165482 | chr2:142789062-142789063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs183174737 | chr2:142789070-142789071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552214708 | chr2:142789094-142789095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | 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 |
| lymphocytic leukemia | 21291569 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mental retardation | 22214275 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 22183965 | CNVD |
| Autism | 22543975 | CNVD |
| Cancer | 20164920 | CNVD |
| Hypertension | 22686481 | CNVD |
| Hypospadia | 22686481 | CNVD |
| Intellectual disability | 22686481 | CNVD |
| Omphalocele | 22686481 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:142788600-142790400 | Weak transcription | NH-A | brain |
