Variant report
| Variant | esv3443122 |
|---|---|
| Chromosome Location | chr7:118910030-118910293 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:118909733..118910708-chr7:145816212..145816735,2 | MCF-7 | breast: | |
| 2 | chr7:118910007..118910665-chr7:120194855..120195659,2 | MCF-7 | breast: | |
| 3 | chr7:118910028..118911067-chr7:119729751..119730686,4 | MCF-7 | breast: | |
| 4 | chr7:118902822..118906670-chr7:118907606..118911086,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 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 | rs375672929 | chr7:118910041-118910042 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs554304299 | chr7:118910076-118910077 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs114242031 | chr7:118910149-118910150 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568528679 | chr7:118910166-118910167 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs537419975 | chr7:118910167-118910168 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs184099804 | chr7:118910177-118910178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77098996 | chr7:118910187-118910188 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs74793429 | chr7:118910208-118910209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs534033082 | chr7:118910209-118910210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs553679213 | chr7:118910216-118910217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs188935654 | chr7:118910228-118910229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73718929 | chr7:118910229-118910230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs73221164 | chr7:118910242-118910243 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:82)
| 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 |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| lymphocytic leukemia | 21291569 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:118909800-118910800 | Enhancers | Liver | Liver |
| 2 | chr7:118910200-118911000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 3 | chr7:118910200-118911200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr7:118910200-118911400 | Enhancers | HMEC | breast |
| 5 | chr7:118910200-118911800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
