Variant report
| Variant | esv3460560 |
|---|---|
| Chromosome Location | chr2:115464392-115464911 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185206703 | chr2:115464427-115464428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs529397205 | chr2:115464528-115464529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs188915020 | chr2:115464551-115464552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568542608 | chr2:115464556-115464557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs569257284 | chr2:115464576-115464577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs114255828 | chr2:115464581-115464582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs551785799 | chr2:115464609-115464610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs147503109 | chr2:115464612-115464613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs140733956 | chr2:115464629-115464630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs554411874 | chr2:115464654-115464655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs567822939 | chr2:115464661-115464662 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs72955668 | chr2:115464662-115464663 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs114261237 | chr2:115464680-115464681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs576070245 | chr2:115464687-115464688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs544717259 | chr2:115464738-115464739 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs113203136 | chr2:115464765-115464766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs4569486 | chr2:115464772-115464773 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs572010787 | chr2:115464813-115464814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs530966659 | chr2:115464832-115464833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs193219823 | chr2:115464869-115464870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs184440630 | chr2:115464870-115464871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:115458600-115466600 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr2:115464200-115465600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
