Variant report
| Variant | esv3418835 |
|---|---|
| Chromosome Location | chr3:94847141-94847686 |
| 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 | chr3:94840742..94842445-chr3:94846541..94849507,2 | K562 | blood: |
| 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 | rs553588608 | chr3:94847148-94847149 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs573459554 | chr3:94847149-94847150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147496471 | chr3:94847166-94847167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200687595 | chr3:94847207-94847208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs34951508 | chr3:94847208-94847209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs151296519 | chr3:94847217-94847218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs33947959 | chr3:94847223-94847224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs565293949 | chr3:94847229-94847230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs116388618 | chr3:94847264-94847265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs546577266 | chr3:94847266-94847267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs189044540 | chr3:94847273-94847274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs563330235 | chr3:94847275-94847276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201827372 | chr3:94847287-94847288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs139598952 | chr3:94847324-94847325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs529044853 | chr3:94847330-94847331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs571547702 | chr3:94847360-94847361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs142365091 | chr3:94847361-94847362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs548908738 | chr3:94847372-94847373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs559572368 | chr3:94847469-94847470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs528387715 | chr3:94847489-94847490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs115628501 | chr3:94847514-94847515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs570941344 | chr3:94847545-94847546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs36018111 | chr3:94847601-94847602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs73170241 | chr3:94847635-94847636 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs140198029 | chr3:94847682-94847683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Acute myeloid leukemia | 20729466 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Cancer | 20164920 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Epilepsy | 21858020 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:94840200-94855200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr3:94846200-94849600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 3 | chr3:94846800-94847800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
