Variant report
| Variant | esv3429938 |
|---|---|
| Chromosome Location | chr15:50228887-50229150 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr15:50223443..50226093-chr15:50228959..50230928,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs199709112 | chr15:50228928-50228929 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs371214908 | chr15:50228929-50228930 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147777962 | chr15:50228936-50228937 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs368888409 | chr15:50228943-50228944 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs58957982 | chr15:50228946-50228947 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs28502034 | chr15:50229015-50229016 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs368292774 | chr15:50229059-50229060 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs143736309 | chr15:50229070-50229071 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs544946973 | chr15:50229083-50229084 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs564312388 | chr15:50229106-50229107 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs28555213 | chr15:50229108-50229109 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs561632950 | chr15:50229137-50229138 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113805011 | chr15:50229145-50229146 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Melanoma | 18172304 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Cancer | 21129771 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:50205400-50234400 | Strong transcription | Primary hematopoietic stem cells short term culture | blood |
| 2 | chr15:50210200-50232400 | Strong transcription | Primary hematopoietic stem cells | blood |
| 3 | chr15:50211400-50232400 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 4 | chr15:50226000-50245200 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
| 5 | chr15:50226400-50232400 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 6 | chr15:50226400-50236000 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
| 7 | chr15:50228200-50229000 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 8 | chr15:50228200-50234200 | Strong transcription | Monocytes-CD14+_RO01746 | blood |
| 9 | chr15:50229000-50232200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
