Variant report
| Variant | esv19428 |
|---|---|
| Chromosome Location | chr6:136311-146637 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:15)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:15 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr6:145454-145868 | K562 | blood: | n/a | chr6:145712-145725 |
| 2 | CTCF | chr6:146311-146504 | K562 | blood: | n/a | n/a |
| 3 | CTCF | chr6:145512-145811 | K562 | blood: | n/a | chr6:145712-145725 |
| 4 | CTCF | chr6:145521-145830 | K562 | blood: | n/a | chr6:145712-145725 |
| 5 | GATA2 | chr6:145059-145275 | K562 | blood: | n/a | n/a |
| 6 | POLR2A | chr6:143590-144009 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 7 | POLR2A | chr6:143690-143895 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 8 | POLR2A | chr6:143449-143605 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 9 | SPI1 | chr6:145063-145264 | K562 | blood: | n/a | n/a |
| 10 | SPI1 | chr6:145072-145273 | K562 | blood: | n/a | n/a |
| 11 | SPI1 | chr6:145062-145283 | GM12878 | blood: | n/a | n/a |
| 12 | USF1 | chr6:144520-144661 | HepG2 | liver: | n/a | chr6:144589-144600 |
| 13 | USF1 | chr6:144504-144663 | HepG2 | liver: | n/a | chr6:144589-144600 |
| 14 | USF1 | chr6:144506-144662 | GM12878 | blood: | n/a | chr6:144589-144600 |
| 15 | ZBTB33 | chr6:143776-144030 | K562 | blood: | n/a | n/a |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-EXOC2-7 | chr6:140264-140379 | NR_109817 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CICP18 | TF binding region |
| LINC00266-3 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs202221391 | chr6:140281-140282 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs372365968 | chr6:140356-140357 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs377150934 | chr6:140368-140369 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs199852223 | chr6:145563-145564 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs550217298 | chr6:145579-145580 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs77207585 | chr6:145615-145616 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Prader-willi syndrome | 20588305 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Cancer | 21183584 | CNVD |
| Multiple Epiphyseal Dysplasia | 20877625 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Glaucoma | 18694899 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Leukemia | 21518781 | CNVD |
| Cancer | 21637783 | CNVD |
| Facial dysmorphism | 22105932 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Autism | 22495311 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Cancer | 20164919 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
