Variant report
| Variant | esv3343124 |
|---|---|
| Chromosome Location | chr4:22031922-22032297 |
| 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 | chr4:22022641..22025613-chr4:22031377..22033219,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 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 | rs186210191 | chr4:22031925-22031926 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs7659568 | chr4:22031932-22031933 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs375757730 | chr4:22031949-22031950 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs114836550 | chr4:22031967-22031968 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557588030 | chr4:22032036-22032037 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569656833 | chr4:22032042-22032043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs536846051 | chr4:22032076-22032077 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs369024308 | chr4:22032096-22032097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs555173673 | chr4:22032113-22032114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs574862865 | chr4:22032129-22032130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs535544286 | chr4:22032136-22032137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs532982272 | chr4:22032148-22032149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs144393698 | chr4:22032160-22032161 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| Cancer | 22183965 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:22031000-22032000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr4:22031000-22032200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr4:22031200-22032400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr4:22031600-22032000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr4:22031600-22032200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 6 | chr4:22031800-22032000 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr4:22031800-22032200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
