Variant report
| Variant | esv3342061 |
|---|---|
| Chromosome Location | chr2:111517848-111518042 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs541833668 | chr2:111517851-111517852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555430749 | chr2:111517866-111517867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs575608072 | chr2:111517868-111517869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544536016 | chr2:111517869-111517870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs527707682 | chr2:111517873-111517874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs58588523 | chr2:111517880-111517881 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs112155962 | chr2:111517881-111517882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs371946308 | chr2:111517894-111517895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs534702829 | chr2:111517903-111517904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs533120210 | chr2:111517911-111517912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs182494997 | chr2:111517923-111517924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs560618686 | chr2:111517956-111517957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529374191 | chr2:111517963-111517964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs548960373 | chr2:111517967-111517968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs149378666 | chr2:111517968-111517969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs568015865 | chr2:111518003-111518004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73956432 | chr2:111518010-111518011 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs552002231 | chr2:111518011-111518012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| 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 | 17483303 | 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 |
| Ovarian cancer | 21781307 | 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 |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ocular motor apraxia | 21572526 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Congenital abnormalities | 21549014 | CNVD |
| Developmental delay | 21549014 | CNVD |
| Idiopathic chronic pancreatitis | 21549014 | CNVD |
| Mental retardation | 21549014 | CNVD |
| Maculopathy | 20981449 | CNVD |
| Nephronophthisis | 22470819 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Ischaemic stroke | 16980335 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Nephronophthisis | 17901113 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:111513200-111525800 | Weak transcription | Fetal Heart | heart |
| 2 | chr2:111516400-111522000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr2:111517400-111524400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
