Variant report
| Variant | esv3433301 |
|---|---|
| Chromosome Location | chr2:151784861-151785406 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs114953828 | chr2:151784877-151784878 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555406506 | chr2:151784913-151784914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs565513538 | chr2:151784941-151784942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs538526647 | chr2:151784980-151784981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs74445798 | chr2:151785007-151785008 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs557803701 | chr2:151785029-151785030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs577850803 | chr2:151785072-151785073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs543250765 | chr2:151785081-151785082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs1548633 | chr2:151785107-151785108 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs62167121 | chr2:151785119-151785120 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs542682461 | chr2:151785124-151785125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs559336455 | chr2:151785134-151785135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs12612667 | chr2:151785153-151785154 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs62168565 | chr2:151785173-151785174 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs565486801 | chr2:151785179-151785180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs139844921 | chr2:151785203-151785204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs59170415 | chr2:151785209-151785210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs184777659 | chr2:151785214-151785215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs562863921 | chr2:151785232-151785233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs529020568 | chr2:151785275-151785276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs376417970 | chr2:151785285-151785286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs34146523 | chr2:151785337-151785338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs1465234 | chr2:151785370-151785371 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs35034680 | chr2:151785375-151785376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs111622675 | chr2:151785400-151785401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:49)
| 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 |
| 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 |
| Lung cancer | 18438408 | CNVD |
| Mental retardation | 22214275 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 19156171 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Autism | 20808228 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:151769000-151788200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr2:151771200-151806800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 3 | chr2:151780800-151787600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 4 | chr2:151782000-151787400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 5 | chr2:151782400-151787400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
