Variant report
| Variant | esv2357525 |
|---|---|
| Chromosome Location | chr11:5140237-5140238 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:14)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:14 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:5138070..5140863-chr11:5316692..5319201,2 | K562 | blood: | |
| 2 | chr11:5140099..5148928-chr11:5149317..5155604,15 | K562 | blood: | |
| 3 | 11:5137223-5140360..11:5533869-5541626 | GM12878 | blood: | |
| 4 | chr11:5138048..5140738-chr11:5144465..5146975,2 | K562 | blood: | |
| 5 | 11:4778081-4789138..11:5137223-5140360 | Hela-S3 | cervix: | |
| 6 | 11:5137223-5140360..11:5527719-5533869 | GM12878 | blood: | |
| 7 | 11:5137223-5140360..11:5243048-5250847 | GM12878 | blood: | |
| 8 | 11:5137223-5140360..11:5566274-5571131 | Hela-S3 | cervix: | |
| 9 | 11:5137223-5140360..11:5505728-5514500 | Hela-S3 | cervix: | |
| 10 | 11:5137223-5140360..11:5721056-5732713 | GM12878 | blood: | |
| 11 | 11:5137223-5140360..11:5250847-5268367 | Hela-S3 | cervix: | |
| 12 | 11:5137223-5140360..11:5714465-5718134 | K562 | blood: | |
| 13 | 11:5137223-5140360..11:5700314-5707362 | H1-hESC | embryonic stem cell: | embryo |
| 14 | 11:5137223-5140360..11:5407716-5412355 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000132256 | chromatin interactions |
| ENSG00000175520 | chromatin interactions |
| ENSG00000184698 | chromatin interactions |
| ENSG00000229988 | chromatin interactions |
| ENSG00000244734 | chromatin interactions |
| ENSG00000205494 | chromatin interactions |
| ENSG00000223609 | chromatin interactions |
| ENSG00000175518 | chromatin interactions |
| ENSG00000221031 | chromatin interactions |
| ENSG00000260629 | chromatin interactions |
| ENSG00000132274 | chromatin interactions |
| ENSG00000181609 | chromatin interactions |
| ENSG00000167346 | chromatin interactions |
| ENSG00000171944 | chromatin interactions |
| ENSG00000181616 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs144919085 | chr11:5140237-5140238 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 19432969 | CNVD |
| Alzheimer''s disease | 17576883 | CNVD |
| Long-qt syndrome | 17576883 | CNVD |
| Emphysema | 19352772 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Neuroblastoma | 21124317 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Cancer | 17160897 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:5137400-5144000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr11:5139000-5144800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
