Variant report
| Variant | esv3436828 |
|---|---|
| Chromosome Location | chr4:10668516-10668838 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:10662152..10664444-chr4:10666207..10668655,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185790687 | chr4:10668516-10668517 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs531613083 | chr4:10668575-10668576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs577174085 | chr4:10668594-10668595 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs376482851 | chr4:10668638-10668639 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs148198596 | chr4:10668676-10668677 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs549525002 | chr4:10668677-10668678 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs190318380 | chr4:10668693-10668694 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs182244846 | chr4:10668694-10668695 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547473726 | chr4:10668705-10668706 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs114276962 | chr4:10668741-10668742 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs534437714 | chr4:10668780-10668781 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs4323097 | chr4:10668791-10668792 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Colorectal cancer | 16272173 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | 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 |
| Neuroblastoma | 18923191 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Autosomal-dominant microtia | 18179897 | CNVD |
| Glioma | 17123091 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:10666600-10672000 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
| 2 | chr4:10666800-10669200 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 3 | chr4:10666800-10669800 | Weak transcription | Fetal Thymus | thymus |
| 4 | chr4:10667000-10669400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 5 | chr4:10667400-10668800 | Enhancers | GM12878-XiMat | blood |
| 6 | chr4:10668400-10669400 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 7 | chr4:10668400-10673000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 8 | chr4:10668800-10672000 | Weak transcription | GM12878-XiMat | blood |
