Variant report
| Variant | esv3388564 |
|---|---|
| Chromosome Location | chr4:78266100-78266299 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:78257188..78259774-chr4:78266144..78268332,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs527521686 | chr4:78266103-78266104 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs532001266 | chr4:78266144-78266145 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540866269 | chr4:78266154-78266155 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs564434258 | chr4:78266157-78266158 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs77621135 | chr4:78266162-78266163 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs141075249 | chr4:78266185-78266186 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs9994215 | chr4:78266190-78266191 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs77986714 | chr4:78266203-78266204 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs568256401 | chr4:78266204-78266205 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs10027556 | chr4:78266215-78266216 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 11 | rs547892525 | chr4:78266241-78266242 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:73)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21858162 | 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 |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Parkinson disease | 21956041 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Parkinson disease | 18923514 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| 4q-syndrome | 17576883 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Muscular dystrophy | 21149563 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Cancer | 22429812 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Autism | 18414403 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:78264600-78266600 | Enhancers | HMEC | breast |
| 2 | chr4:78264800-78266400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr4:78264800-78266400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 4 | chr4:78265000-78266600 | Enhancers | NHEK | skin |
| 5 | chr4:78265200-78266200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 6 | chr4:78265400-78270200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 7 | chr4:78266000-78266400 | Enhancers | GM12878-XiMat | blood |
| 8 | chr4:78266200-78270000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
