Variant report
| Variant | esv1930931 |
|---|---|
| Chromosome Location | chr4:10342344-10342347 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:10332430..10334686-chr4:10341439..10343470,2 | K562 | blood: | |
| 2 | chr4:10326438..10329327-chr4:10340874..10342507,2 | K562 | blood: | |
| 3 | chr4:10338266..10339875-chr4:10342241..10344480,2 | K562 | blood: | |
| 4 | chr4:10242448..10244811-chr4:10340269..10342798,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs55759538 | chr4:10342344-10342345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs33979454 | chr4:10342345-10342346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs114499179 | chr4:10342346-10342347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:10337400-10343000 | Weak transcription | K562 | blood |
| 2 | chr4:10338800-10346800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 3 | chr4:10339200-10346800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr4:10339400-10346800 | Weak transcription | NHEK | skin |
| 5 | chr4:10339800-10345400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 6 | chr4:10340000-10346400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
