Variant report
| Variant | esv3428254 |
|---|---|
| Chromosome Location | chr2:142232179-142232693 |
| 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 | rs12053264 | chr2:142232238-142232239 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs545910409 | chr2:142232244-142232245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs553087482 | chr2:142232260-142232261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs12053570 | chr2:142232270-142232271 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs541638397 | chr2:142232307-142232308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12053266 | chr2:142232308-142232309 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs371085844 | chr2:142232336-142232337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs13035780 | chr2:142232339-142232340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12053574 | chr2:142232349-142232350 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs77666899 | chr2:142232359-142232360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs563724632 | chr2:142232415-142232416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs72849086 | chr2:142232427-142232428 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs548599273 | chr2:142232460-142232461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs13036153 | chr2:142232499-142232500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs559412583 | chr2:142232548-142232549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs183556378 | chr2:142232580-142232581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs72989045 | chr2:142232593-142232594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs6429887 | chr2:142232606-142232607 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs386651246 | chr2:142232633-142232634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs6429889 | chr2:142232634-142232635 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs570462236 | chr2:142232658-142232659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| 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 |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Glioblastoma multiforme | 19435819 | 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 |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:142227000-142238000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr2:142229200-142239000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr2:142231400-142236600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
