Variant report
| Variant | esv3509147 |
|---|---|
| Chromosome Location | chr4:21530320-21530471 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs6814028 | chr4:21530343-21530344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs539521482 | chr4:21530345-21530346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs13105163 | chr4:21530351-21530352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs558210800 | chr4:21530353-21530354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs576599081 | chr4:21530357-21530358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs35432462 | chr4:21530359-21530360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs3967120 | chr4:21530362-21530363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs550024037 | chr4:21530381-21530382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs34656518 | chr4:21530395-21530396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200338249 | chr4:21530403-21530404 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs367673255 | chr4:21530407-21530408 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs57121864 | chr4:21530411-21530412 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs200689772 | chr4:21530415-21530416 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs3967121 | chr4:21530419-21530420 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs4435738 | chr4:21530423-21530424 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs59209077 | chr4:21530427-21530428 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs368034389 | chr4:21530431-21530432 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs187015606 | chr4:21530435-21530436 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs199526174 | chr4:21530438-21530439 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs191808824 | chr4:21530439-21530440 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs58743158 | chr4:21530447-21530448 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs200652163 | chr4:21530448-21530449 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs202065439 | chr4:21530453-21530454 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Neuroblastoma | 18923191 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Breast cancer | 17133270 | 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 |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 22737080 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 22183965 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:21528200-21536000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr4:21530400-21531800 | Enhancers | HUVEC | blood vessel |
