Variant report
| Variant | esv3389769 |
|---|---|
| Chromosome Location | chr4:47050870-47051190 |
| 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 | rs551398587 | chr4:47050906-47050907 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs569785943 | chr4:47050922-47050923 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs536872346 | chr4:47050938-47050939 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs528934868 | chr4:47050940-47050941 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs199661477 | chr4:47050976-47050977 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568544128 | chr4:47050986-47050987 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs190367536 | chr4:47051024-47051025 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs141563592 | chr4:47051047-47051048 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572358205 | chr4:47051049-47051050 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs150495145 | chr4:47051054-47051055 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs75060514 | chr4:47051080-47051081 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs5858051 | chr4:47051081-47051082 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs77817546 | chr4:47051083-47051084 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs114540609 | chr4:47051108-47051109 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs138333192 | chr4:47051151-47051152 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs541670887 | chr4:47051168-47051169 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs4315750 | chr4:47051185-47051186 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs573400673 | chr4:47051188-47051189 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Parkinson disease | 21956041 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:47050200-47052800 | Enhancers | Brain Anterior Caudate | brain |
| 2 | chr4:47050400-47051000 | Enhancers | Brain Cingulate Gyrus | brain |
| 3 | chr4:47050400-47051600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 4 | chr4:47050400-47051600 | Enhancers | Brain Substantia Nigra | brain |
| 5 | chr4:47050800-47051000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 6 | chr4:47051000-47051200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 7 | chr4:47051000-47052000 | Weak transcription | Brain Cingulate Gyrus | brain |
| 8 | chr4:47051000-47053200 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
