Variant report
| Variant | esv1921476 |
|---|---|
| Chromosome Location | chr2:145674354-145674797 |
| 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 | chr2:145672621..145674786-chr2:145681190..145683817,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:24 , 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 | rs150639693 | chr2:145674356-145674357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs556780278 | chr2:145674390-145674391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113960658 | chr2:145674395-145674396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs575095974 | chr2:145674439-145674440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536173025 | chr2:145674454-145674455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs182392029 | chr2:145674467-145674468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs373174908 | chr2:145674470-145674471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs573061053 | chr2:145674487-145674488 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs201556587 | chr2:145674540-145674541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs199740038 | chr2:145674541-145674542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200670919 | chr2:145674542-145674543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539848804 | chr2:145674549-145674550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs564856480 | chr2:145674560-145674561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs28454238 | chr2:145674566-145674567 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs188280291 | chr2:145674585-145674586 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs192697751 | chr2:145674586-145674587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs530303289 | chr2:145674603-145674604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs545862873 | chr2:145674608-145674609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs564437455 | chr2:145674647-145674648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs185451680 | chr2:145674661-145674662 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535705373 | chr2:145674672-145674673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs187292853 | chr2:145674699-145674700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs527940956 | chr2:145674739-145674740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs552301821 | chr2:145674753-145674754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| 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 | 21080181 | CNVD |
| Non-syndromic sensorineural hearing loss | 20456320 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:145668800-145695600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
