Variant report
| Variant | nsv608963 |
|---|---|
| Chromosome Location | chr7:147283270-147284351 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs6464829 | chr7:147283270-147283271 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs149955341 | chr7:147283271-147283272 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570650362 | chr7:147283294-147283295 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs180725100 | chr7:147283329-147283330 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs6943922 | chr7:147283339-147283340 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs6947921 | chr7:147283342-147283343 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs535526558 | chr7:147283347-147283348 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs386719089 | chr7:147283375-147283376 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs6943947 | chr7:147283376-147283377 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs145024295 | chr7:147283384-147283385 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs6947944 | chr7:147283398-147283399 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs578172598 | chr7:147283410-147283411 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs544064857 | chr7:147283417-147283418 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs563839090 | chr7:147283433-147283434 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs386719090 | chr7:147283440-147283441 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs79448720 | chr7:147283442-147283443 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs576229217 | chr7:147283444-147283445 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs112997649 | chr7:147283450-147283451 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs73466987 | chr7:147283468-147283469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs561616491 | chr7:147283488-147283489 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs66477973 | chr7:147283521-147283522 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs67284428 | chr7:147283525-147283526 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs564438100 | chr7:147283534-147283535 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs533022533 | chr7:147283543-147283544 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs112592442 | chr7:147283599-147283600 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs111306967 | chr7:147283604-147283605 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs72503612 | chr7:147283605-147283606 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs199721916 | chr7:147283613-147283614 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs375042446 | chr7:147283614-147283615 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs199633451 | chr7:147283615-147283616 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs200578851 | chr7:147283616-147283617 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs75957951 | chr7:147283617-147283618 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs199811578 | chr7:147283618-147283619 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs149080051 | chr7:147283619-147283620 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs76455709 | chr7:147283620-147283621 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs111302942 | chr7:147283623-147283624 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs151155716 | chr7:147283637-147283638 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs28497534 | chr7:147283639-147283640 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs74361421 | chr7:147283643-147283644 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs78346721 | chr7:147283647-147283648 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs78397505 | chr7:147283651-147283652 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs74913909 | chr7:147283655-147283656 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs78288861 | chr7:147283659-147283660 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs78231582 | chr7:147283663-147283664 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs147499730 | chr7:147283670-147283671 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs201312265 | chr7:147283679-147283680 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs202232729 | chr7:147283681-147283682 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs182616404 | chr7:147283695-147283696 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs188129849 | chr7:147283735-147283736 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs549497132 | chr7:147283794-147283795 | Weak transcription 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 |
| Wilms tumour | 21544195 | 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 |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Stuttering | 21108403 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Schizophrenia | 17646849 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Heart disease | 21282601 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Pancreatitis | 21956041 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Tourette syndrome | 19546859 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Autism | 20808228 | CNVD |
| Schizophrenia | 20838587 | CNVD |
| Schizophrenia | 20718829 | CNVD |
| Neuropsychiatric disorder | 21827697 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Autism | 20964600 | CNVD |
| Epilepsy | 17646849 | CNVD |
| Mental retardation | 19896112 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:147268000-147283800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr7:147278400-147283800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr7:147281000-147284400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr7:147281400-147284800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 5 | chr7:147281400-147284800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 6 | chr7:147281600-147284600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr7:147282200-147283600 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 8 | chr7:147282200-147283600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 9 | chr7:147282800-147284600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr7:147283000-147283800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 11 | chr7:147283000-147284400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 12 | chr7:147283000-147284800 | Enhancers | H1 Cell Line | embryonic stem cell |
| 13 | chr7:147283200-147283800 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 14 | chr7:147283200-147284000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 15 | chr7:147283600-147284000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 16 | chr7:147283600-147284400 | Enhancers | H9 Cell Line | embryonic stem cell |
| 17 | chr7:147283800-147284200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 18 | chr7:147283800-147284200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 19 | chr7:147283800-147284400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 20 | chr7:147283800-147284600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 21 | chr7:147283800-147284800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 22 | chr7:147284000-147284200 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 23 | chr7:147284000-147284600 | Enhancers | Fetal Kidney | kidney |
