Variant report
| Variant | esv3518951 |
|---|---|
| Chromosome Location | chr4:21368404-21377902 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:21373360..21375651-chr4:21376032..21378469,2 | MCF-7 | breast: | |
| 2 | chr4:21373360..21375651-chr4:21376032..21378469,2 | MCF-7 | breast: | |
| 3 | chr4:21372485..21375089-chr4:21376184..21378296,2 | K562 | blood: | |
| 4 | chr4:21372485..21375089-chr4:21376184..21378296,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:14 , 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 | rs571204217 | chr4:21368437-21368438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs187880612 | chr4:21368440-21368441 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs530478924 | chr4:21368451-21368452 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs73802589 | chr4:21368474-21368475 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs75979557 | chr4:21368510-21368511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs139522190 | chr4:21368515-21368516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs35540426 | chr4:21368537-21368538 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs540061128 | chr4:21368552-21368553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs145164689 | chr4:21368603-21368604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs192871132 | chr4:21368631-21368632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs535229335 | chr4:21368641-21368642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs547244769 | chr4:21368667-21368668 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs553744303 | chr4:21368687-21368688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs566340180 | chr4:21368711-21368712 | 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 | chr4:21367200-21368800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr4:21367400-21368600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr4:21367400-21368800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr4:21367600-21368600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 5 | chr4:21367600-21368600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr4:21367800-21368600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 7 | chr4:21368400-21368800 | Enhancers | H1 Cell Line | embryonic stem cell |
| 8 | chr4:21368600-21368800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
