Variant report
| Variant | nsv5883 |
|---|---|
| Chromosome Location | chr7:102807447-102814693 |
| 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 | chr7:102788301..102790522-chr7:102804564..102807525,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000161048 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs149138509 | chr7:102807488-102807489 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs1968200 | chr7:102807549-102807550 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs34589053 | chr7:102807573-102807574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568961376 | chr7:102807644-102807645 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs10278198 | chr7:102807653-102807654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs552650700 | chr7:102807686-102807687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs76284802 | chr7:102807687-102807688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs77438725 | chr7:102807688-102807689 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183611966 | chr7:102807701-102807702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs574355887 | chr7:102807712-102807713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs535381910 | chr7:102807758-102807759 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs556489387 | chr7:102807779-102807780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs540120984 | chr7:102807780-102807781 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs545520364 | chr7:102807803-102807804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs62484781 | chr7:102807820-102807821 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 16 | rs572882462 | chr7:102807895-102807896 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187510786 | chr7:102807919-102807920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs560007732 | chr7:102807955-102807956 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs62484782 | chr7:102807963-102807964 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 20 | rs548902966 | chr7:102808018-102808019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs34180340 | chr7:102808069-102808070 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs148296509 | chr7:102808136-102808137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs530926373 | chr7:102808137-102808138 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs9641307 | chr7:102808192-102808193 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs199500107 | chr7:102808199-102808200 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs191966719 | chr7:102808202-102808203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs150476792 | chr7:102808236-102808237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs138491976 | chr7:102808258-102808259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs567917570 | chr7:102808282-102808283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs9641308 | chr7:102808283-102808284 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs184953325 | chr7:102808301-102808302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs530869489 | chr7:102808307-102808308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs542737416 | chr7:102808316-102808317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs189329059 | chr7:102808350-102808351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs373194335 | chr7:102808358-102808359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs9640672 | chr7:102808362-102808363 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs539977828 | chr7:102808420-102808421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs561095652 | chr7:102808510-102808511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs10282151 | chr7:102808516-102808517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs62484783 | chr7:102808530-102808531 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 41 | rs2411084 | chr7:102808571-102808572 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs111858263 | chr7:102808576-102808577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs376098306 | chr7:102808577-102808578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs542483374 | chr7:102808579-102808580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs139607969 | chr7:102808610-102808611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs367626418 | chr7:102808615-102808616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs531142923 | chr7:102808624-102808625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs372279755 | chr7:102808665-102808666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs192404885 | chr7:102808733-102808734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs149481526 | chr7:102808833-102808834 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17170743 | CNVD |
| 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 |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | 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 |
| small cell lung cancer | 20016488 | 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 |
| Prostate cancer | 16461572 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Emphysema | 19352772 | CNVD |
| Effusion lymphoma | 18079361 | CNVD |
| Medulloblastoma | 17653508 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Autism | 19401682 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Cancer | 19907438 | CNVD |
| Breast cancer | 21364760 | CNVD |
| abnormal development | 18461090 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Glioblastoma multiforme | 21510904 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:102806600-102808200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr7:102807400-102807800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 3 | chr7:102807400-102807800 | Enhancers | Adipose Nuclei | Adipose |
| 4 | chr7:102808200-102812200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 5 | chr7:102808800-102809200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 6 | chr7:102812000-102812600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr7:102812200-102812600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 8 | chr7:102812200-102812600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 9 | chr7:102812200-102813600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 10 | chr7:102812400-102813000 | Enhancers | Fetal Brain Male | brain |
| 11 | chr7:102812600-102813000 | Enhancers | Brain Cingulate Gyrus | brain |
| 12 | chr7:102813800-102814200 | Enhancers | K562 | blood |






