Variant report
Variant | esv3522292 |
---|---|
Chromosome Location | chr19:51776321-51776741 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | SPI1 | chr19:51775604-51776432 | HL-60 | blood: | n/a | chr19:51776218-51776231 |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:51770888..51773726-chr19:51775825..51777713,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000268595 | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs559698496 | chr19:51776327-51776328 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs73932898 | chr19:51776376-51776377 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs548026878 | chr19:51776399-51776400 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs531284181 | chr19:51776428-51776429 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs563468791 | chr19:51776439-51776440 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs530561321 | chr19:51776456-51776457 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs191712273 | chr19:51776464-51776465 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs560794317 | chr19:51776465-51776466 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs528104675 | chr19:51776517-51776518 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs551222747 | chr19:51776668-51776669 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs536152253 | chr19:51776690-51776691 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs58738030 | chr19:51776719-51776720 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Congenital nephrotic syndrome | 18421352 | CNVD |
Astrocytoma | 17934521 | CNVD |
Leukemia | 17361228 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
renal disease | 20603712 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Chordoma | 18071362 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Bladder cancer | 21909424 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Wilms tumour | 21544195 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18852474 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Cervical cancer | 21062161 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Prostate cancer | 16573809 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Adrenocortical carcinoma | 18281524 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Lung cancer | 18438408 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:51770400-51777400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr19:51773800-51776400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
3 | chr19:51774200-51776400 | Enhancers | Primary monocytes fromperipheralblood | blood |
4 | chr19:51774600-51785200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr19:51775200-51776400 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
6 | chr19:51775200-51776400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
7 | chr19:51775600-51776400 | Enhancers | A549 | lung |
8 | chr19:51776000-51777600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
9 | chr19:51776000-51781000 | Weak transcription | K562 | blood |
10 | chr19:51776400-51776800 | Weak transcription | A549 | lung |