Variant report
| Variant | nsv818641 |
|---|---|
| Chromosome Location | chr8:87643741-87658739 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- 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 |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:87656085..87657978-chr8:87658309..87660793,2 | MCF-7 | breast: | |
| 2 | chr8:87656085..87657978-chr8:87658309..87660793,2 | MCF-7 | breast: | |
| 3 | chr8:87645513..87648177-chr8:87651585..87653809,2 | K562 | blood: | |
| 4 | chr8:87645513..87648177-chr8:87651585..87653809,2 | K562 | blood: | |
| 5 | chr8:87643326..87646247-chr8:87673858..87676137,2 | MCF-7 | breast: | |
| 6 | chr8:87651022..87653242-chr9:135082059..135083847,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000233915 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs16916239 | chr8:87643741-87643742 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs368480638 | chr8:87643776-87643777 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs181895333 | chr8:87643777-87643778 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs544035357 | chr8:87643859-87643860 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs559290562 | chr8:87643872-87643873 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs149035213 | chr8:87643923-87643924 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs116217720 | chr8:87643972-87643973 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs115833837 | chr8:87643989-87643990 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs16916240 | chr8:87643990-87643991 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs116057187 | chr8:87644008-87644009 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs374850760 | chr8:87644009-87644010 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs113972900 | chr8:87644026-87644027 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs190665644 | chr8:87644074-87644075 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs76433848 | chr8:87644109-87644110 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs373785177 | chr8:87644138-87644139 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs10106841 | chr8:87644201-87644202 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs111833918 | chr8:87644277-87644278 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs528228699 | chr8:87644278-87644279 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs550430009 | chr8:87644315-87644316 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs142949424 | chr8:87644368-87644369 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs571845435 | chr8:87644405-87644406 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs536710066 | chr8:87644424-87644425 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs71574289 | chr8:87644427-87644428 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs71275869 | chr8:87644447-87644448 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs117244050 | chr8:87644510-87644511 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs566186429 | chr8:87644514-87644515 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs111262020 | chr8:87644527-87644528 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs141026976 | chr8:87644567-87644568 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs536939733 | chr8:87644582-87644583 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs548606208 | chr8:87644595-87644596 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs559228905 | chr8:87644634-87644635 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs570007686 | chr8:87644637-87644638 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs577577387 | chr8:87644659-87644660 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs67858232 | chr8:87644741-87644742 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs553752434 | chr8:87644794-87644795 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs571952704 | chr8:87644888-87644889 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs558564309 | chr8:87644909-87644910 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs67463707 | chr8:87644924-87644925 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs560801528 | chr8:87644931-87644932 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs372434700 | chr8:87644959-87644960 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs374379465 | chr8:87644970-87644971 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs368342556 | chr8:87644975-87644976 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs201825105 | chr8:87644985-87644986 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs375524869 | chr8:87644987-87644988 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs121918344 | chr8:87644996-87644997 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs113716962 | chr8:87645000-87645001 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs372302139 | chr8:87645045-87645046 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs200452343 | chr8:87645071-87645072 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs147876778 | chr8:87645092-87645093 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs139825253 | chr8:87645096-87645097 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:111)
| 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 |
| Autism | 22495311 | 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 |
| Acute lymphoblastic leukemia | 22237106 | 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 |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | 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 |
| 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 |
| Autism | 20841430 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| head and neck squamous cell carcinoma | 19451471 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Prostate cancer | 20978177 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:87651800-87652000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 2 | chr8:87653000-87653200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr8:87653400-87654600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr8:87653600-87653800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr8:87653600-87654800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr8:87653600-87654800 | Enhancers | Fetal Kidney | kidney |
| 7 | chr8:87653600-87656600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 8 | chr8:87653800-87654800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 9 | chr8:87653800-87654800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 10 | chr8:87653800-87656000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 11 | chr8:87654200-87654600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 12 | chr8:87654600-87655000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 13 | chr8:87654600-87655800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 14 | chr8:87654800-87655800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 15 | chr8:87655000-87656000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 16 | chr8:87655800-87656600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 17 | chr8:87655800-87656600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 18 | chr8:87656000-87656600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 19 | chr8:87656200-87656400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 20 | chr8:87656400-87656600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 21 | chr8:87656400-87656600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
