Variant report
| Variant | esv33698 |
|---|---|
| Chromosome Location | chr7:126275333-126276183 |
| 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 | chr5:5431864..5432633-chr7:126274991..126275821,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs550574234 | chr7:126275342-126275343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs371689596 | chr7:126275386-126275387 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs555913753 | chr7:126275438-126275439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567243088 | chr7:126275499-126275500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs574853731 | chr7:126275500-126275501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs187418512 | chr7:126275521-126275522 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs536272344 | chr7:126275655-126275656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs75089958 | chr7:126275663-126275664 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs539085306 | chr7:126275682-126275683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs370093910 | chr7:126275691-126275692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552755686 | chr7:126275701-126275702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs572900221 | chr7:126275753-126275754 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs538454299 | chr7:126275801-126275802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs189435104 | chr7:126275854-126275855 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs6946642 | chr7:126275858-126275859 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs150214456 | chr7:126275859-126275860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs181631635 | chr7:126275861-126275862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs576772464 | chr7:126275935-126275936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs185913094 | chr7:126275951-126275952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs190334194 | chr7:126276012-126276013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs377658485 | chr7:126276014-126276015 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs560867901 | chr7:126276049-126276050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs532761013 | chr7:126276064-126276065 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs573665170 | chr7:126276067-126276068 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs560036868 | chr7:126276145-126276146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs542621099 | chr7:126276148-126276149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:95)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 23792589 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Non-small cell lung cancer | 19889201 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Autism | 18414403 | CNVD |
| Autism | 19401682 | CNVD |
| Autism | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Tourette syndrome | 19546859 | CNVD |
| Melanoma | 19188590 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21509527 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Autism | 20808228 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 20164919 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:126274400-126276200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr7:126274800-126276200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr7:126275600-126276200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
