Variant report
| Variant | esv3422133 |
|---|---|
| Chromosome Location | chr8:95602201-95604749 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:193)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:95603445..95604962-chr8:95650191..95651732,2 | MCF-7 | breast: | |
| 2 | chr8:95604280..95605218-chr8:95654234..95655141,4 | MCF-7 | breast: | |
| 3 | chr8:95604279..95604876-chr8:95624972..95625755,2 | MCF-7 | breast: | |
| 4 | chr8:95604274..95605200-chr8:95725698..95726286,2 | MCF-7 | breast: | |
| 5 | chr8:95603957..95608238-chr8:95651708..95655027,4 | MCF-7 | breast: | |
| 6 | chr8:95604246..95605617-chr8:95725348..95726635,8 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254190 | TF binding region |
| ENSG00000254283 | TF binding region |
| ENSG00000261437 | chromatin interactions |
| ENSG00000104413 | chromatin interactions |
| ENSG00000199701 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs554204488 | chr8:95603792-95603793 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs575308543 | chr8:95603829-95603830 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs113491658 | chr8:95603850-95603851 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs547302220 | chr8:95603927-95603928 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs377334390 | chr8:95603957-95603958 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs567743797 | chr8:95603958-95603959 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 7 | rs536385733 | chr8:95603959-95603960 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 8 | rs12335146 | chr8:95603994-95603995 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 9 | rs9773485 | chr8:95604020-95604021 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 10 | rs9771929 | chr8:95604047-95604048 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 11 | rs556250783 | chr8:95604048-95604049 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 12 | rs372994063 | chr8:95604065-95604066 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 13 | rs12335147 | chr8:95604066-95604067 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 14 | rs10429382 | chr8:95604070-95604071 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 15 | rs112712997 | chr8:95604077-95604078 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 16 | rs538672471 | chr8:95604100-95604101 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 17 | rs9772288 | chr8:95604120-95604121 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 18 | rs12334602 | chr8:95604131-95604132 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 19 | rs9772297 | chr8:95604192-95604193 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 20 | rs559172191 | chr8:95604195-95604196 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 21 | rs572685849 | chr8:95604197-95604198 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 22 | rs541592937 | chr8:95604199-95604200 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 23 | rs10956920 | chr8:95604203-95604204 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 24 | rs568079155 | chr8:95604272-95604273 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 25 | rs370472938 | chr8:95604363-95604364 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 26 | rs573671852 | chr8:95604393-95604394 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 27 | rs575728549 | chr8:95604506-95604507 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 28 | rs371837556 | chr8:95604553-95604554 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 29 | rs562592247 | chr8:95604555-95604556 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 30 | rs531297726 | chr8:95604556-95604557 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 31 | rs12381508 | chr8:95604580-95604581 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 32 | rs66812248 | chr8:95604591-95604592 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 33 | rs66673797 | chr8:95604592-95604593 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 34 | rs201472897 | chr8:95604593-95604594 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 35 | rs376036722 | chr8:95604594-95604595 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 36 | rs545055853 | chr8:95604595-95604596 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 37 | rs67232391 | chr8:95604627-95604628 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 38 | rs565162616 | chr8:95604660-95604661 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 39 | rs6984001 | chr8:95604669-95604670 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 40 | rs142002076 | chr8:95604717-95604718 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 41 | rs192207952 | chr8:95604730-95604731 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 42 | rs1895875 | chr8:95604739-95604740 | Inactive region | TF binding regionChromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:113)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Epilepsy | 20502679 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| head and neck squamous cell carcinoma | 19451471 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Neuropsychiatric disorder | 20069037 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Gastric cancer | 22014070 | CNVD |
| Breast cancer | 22522925 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
