Variant report
| Variant | esv1227722 |
|---|---|
| Chromosome Location | chr15:83741663-83741686 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr15:83739861..83742001-chr15:83749630..83751735,2 | K562 | blood: | |
| 2 | chr15:83734506..83738383-chr15:83739327..83743772,4 | K562 | blood: | |
| 3 | chr15:83740878..83742663-chr15:83761508..83763284,2 | K562 | blood: | |
| 4 | chr15:83739821..83742746-chr15:83743126..83746658,4 | MCF-7 | breast: | |
| 5 | chr15:83734506..83739155-chr15:83740839..83743772,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000263643 | chromatin interactions |
| ENSG00000064726 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs199568396 | chr15:83741664-83741665 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs61578165 | chr15:83741665-83741666 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 3 | rs113746587 | chr15:83741666-83741667 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs58932840 | chr15:83741668-83741669 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs58535361 | chr15:83741669-83741670 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs57096854 | chr15:83741671-83741672 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 7 | rs58613368 | chr15:83741674-83741675 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 8 | rs2381029 | chr15:83741677-83741678 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 9 | rs373246577 | chr15:83741686-83741687 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Wilms tumour | 21544195 | 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 |
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Cancer | 16751803 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Autism | 17322880 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Autism | 21480499 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| abnormal development | 18461090 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
