Variant report
| Variant | esv1471207 |
|---|---|
| Chromosome Location | chr10:43989153-43989166 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr10:43982430..43985170-chr10:43989112..43991978,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs556137057 | chr10:43989156-43989157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs4948729 | chr10:43989157-43989158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs199781963 | chr10:43989158-43989159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375538352 | chr10:43989159-43989160 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs61078187 | chr10:43989161-43989162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs377175855 | chr10:43989163-43989164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs59343193 | chr10:43989165-43989166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Cancer | 21183584 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Obesity | 21956041 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21948486 | CNVD |
| Dysmorphic features | 21948486 | CNVD |
| Epilepsy | 21948486 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:43987400-44003200 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
