Variant report
| Variant | esv3503132 |
|---|---|
| Chromosome Location | chr2:127674032-127678280 |
| 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 | chr2:127663020..127665879-chr2:127676391..127678881,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:21 , 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 | rs534115425 | chr2:127674400-127674401 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs148063502 | chr2:127674435-127674436 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs551033941 | chr2:127674439-127674440 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs367924342 | chr2:127674442-127674443 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs368809462 | chr2:127674446-127674447 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs192163341 | chr2:127674473-127674474 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs199813052 | chr2:127674480-127674481 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs569286299 | chr2:127674511-127674512 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs113646789 | chr2:127674538-127674539 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs113320779 | chr2:127674557-127674558 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs79651427 | chr2:127674560-127674561 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs555220906 | chr2:127674572-127674573 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs150588596 | chr2:127674587-127674588 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs184484508 | chr2:127674603-127674604 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs564330233 | chr2:127674609-127674610 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs78476253 | chr2:127674632-127674633 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs532458732 | chr2:127674712-127674713 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs28405391 | chr2:127674739-127674740 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs188659599 | chr2:127674746-127674747 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs531713393 | chr2:127674748-127674749 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs375674457 | chr2:127674758-127674759 | Active TSS | 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 |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hepatocellular carcinoma | 16750200 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Mental retardation | 17621639 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:127674400-127674600 | Bivalent/Poised TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr2:127674600-127674800 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
