Variant report
| Variant | esv2274279 |
|---|---|
| Chromosome Location | chr2:53365895-53366460 |
| 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 | chr2:53363717..53366241-chr2:53367995..53370681,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:23 , 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 | rs541123266 | chr2:53365966-53365967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs181281065 | chr2:53365986-53365987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201730608 | chr2:53365992-53365993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs185915629 | chr2:53366003-53366004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs543094531 | chr2:53366114-53366115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs562919343 | chr2:53366129-53366130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs10203648 | chr2:53366159-53366160 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs552027310 | chr2:53366165-53366166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs189367388 | chr2:53366182-53366183 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs528234145 | chr2:53366204-53366205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10168853 | chr2:53366214-53366215 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs568509810 | chr2:53366267-53366268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs182305340 | chr2:53366273-53366274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs186552050 | chr2:53366277-53366278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs113067693 | chr2:53366279-53366280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs191106681 | chr2:53366305-53366306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs374139923 | chr2:53366352-53366353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs369827047 | chr2:53366383-53366384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs368325884 | chr2:53366392-53366393 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs71408705 | chr2:53366406-53366407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs553655995 | chr2:53366421-53366422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs573393437 | chr2:53366443-53366444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs9677296 | chr2:53366444-53366445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| 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 |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| lymphocytic leukemia | 21291569 | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| abnormal development | 18461090 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Chronic lymphocytic leukemia | 17053054 | CNVD |
| Hereditary non-polyposis colorectal cancer | 19566914 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:53362800-53368000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
