Variant report
| Variant | esv1928009 |
|---|---|
| Chromosome Location | chr2:234500048-234500049 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:11)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:11 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 2:234498935-234505513..2:234666975-234672018 | Hela-S3 | cervix: | |
| 2 | 2:234498935-234505513..2:234572898-234594986 | K562 | blood: | |
| 3 | 2:234498935-234505513..2:234543708-234558325 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 2:234498935-234505513..2:234635414-234639782 | Hela-S3 | cervix: | |
| 5 | 2:234498935-234505513..2:234743181-234749667 | Hela-S3 | cervix: | |
| 6 | chr2:234495064..234497019-chr2:234498487..234500716,2 | K562 | blood: | |
| 7 | 2:234498935-234505513..2:234835115-234838817 | Hela-S3 | cervix: | |
| 8 | 2:234498935-234505513..2:234954947-234965240 | Hela-S3 | cervix: | |
| 9 | 2:234498935-234505513..2:234825998-234827518 | Hela-S3 | cervix: | |
| 10 | 2:234498935-234505513..2:234683624-234705119 | K562 | blood: | |
| 11 | 2:234498935-234505513..2:234898811-234918017 | Hela-S3 | cervix: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000144481 | chromatin interactions |
| ENSG00000123485 | chromatin interactions |
| ENSG00000241635 | chromatin interactions |
| ENSG00000072080 | chromatin interactions |
| ENSG00000242366 | chromatin interactions |
| ENSG00000244122 | chromatin interactions |
| ENSG00000241119 | chromatin interactions |
| ENSG00000234143 | chromatin interactions |
| ENSG00000243135 | chromatin interactions |
| ENSG00000185038 | chromatin interactions |
| ENSG00000242515 | 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 | rs71935517 | chr2:234500048-234500049 | Inactive region | Chromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Chordoma | 18071362 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Cancer | 22429812 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| prenatal diagnosis | 22389664 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Mental retardation | 20152051 | CNVD |
| Cancer | 21183584 | CNVD |
| Albright''s disease | 22277900 | CNVD |
| Brachydactyly-Mental Retardation Syndrome | 22470819 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Autism | 18414403 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20605837 | CNVD |
| Breast cancer | 22522925 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
