Variant report
| Variant | esv2557814 |
|---|---|
| Chromosome Location | chr16:55686817-55686818 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:11 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EP300 | chr16:55685988-55686877 | SK-N-SH_RA | brain: | n/a | n/a |
| 2 | EP300 | chr16:55685949-55686835 | SK-N-SH_RA | brain: | n/a | n/a |
| 3 | EP300 | chr16:55685034-55688103 | SK-N-SH | brain: | n/a | n/a |
| 4 | GATA2 | chr16:55685967-55686980 | SH-SY5Y | brain: | n/a | chr16:55686483-55686492 chr16:55685997-55686005 |
| 5 | GATA3 | chr16:55685971-55686873 | SK-N-SH | brain: | n/a | chr16:55686483-55686492 chr16:55685997-55686005 |
| 6 | GATA3 | chr16:55685924-55686878 | SK-N-SH | brain: | n/a | chr16:55686483-55686492 chr16:55685997-55686005 |
| 7 | GATA3 | chr16:55686007-55686963 | SH-SY5Y | brain: | n/a | chr16:55686483-55686492 |
| 8 | MXI1 | chr16:55685637-55688813 | SK-N-SH | brain: | n/a | n/a |
| 9 | POLR2A | chr16:55686687-55686958 | SK-N-SH | brain: | n/a | n/a |
| 10 | REST | chr16:55685969-55686869 | SK-N-SH | brain: | n/a | n/a |
| 11 | TCF12 | chr16:55685816-55686936 | SK-N-SH | brain: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr16:55684943..55687258-chr16:55695232..55697470,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| SLC6A2 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs58532686 | chr16:55686817-55686818 | Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs28386840 | chr16:55686818-55686819 | Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Infertility | 21528002 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22581003 | CNVD |
| Melanoma | 17363583 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:55686200-55687000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 2 | chr16:55686600-55687000 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
