Variant report
| Variant | nsv1017988 |
|---|---|
| Chromosome Location | chr5:46035145-46389261 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:175202235..175203755-chr5:46204424..46205944,2 | MCF-7 | breast: | |
| 2 | chr1:63102529..63105125-chr5:46100658..46103318,2 | MCF-7 | breast: | |
| 3 | chr4:68265057..68265577-chr5:46205420..46205943,2 | MCF-7 | breast: | |
| 4 | chr1:121483702..121485225-chr5:46334811..46336331,2 | MCF-7 | breast: | |
| 5 | chr17:57915525..57918399-chr5:46361638..46364174,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs376815624 | chr5:46035145-46035146 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs533392689 | chr5:46035191-46035192 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs141544252 | chr5:46035192-46035193 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568654498 | chr5:46035205-46035206 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs150523519 | chr5:46035206-46035207 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs563999417 | chr5:46035207-46035208 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs531441201 | chr5:46035208-46035209 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs547892562 | chr5:46035223-46035224 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs570810827 | chr5:46035246-46035247 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs539831132 | chr5:46035276-46035277 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs556276348 | chr5:46035285-46035286 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs568860657 | chr5:46035296-46035297 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs537728821 | chr5:46035333-46035334 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs190478997 | chr5:46035359-46035360 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574311593 | chr5:46035362-46035363 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs559419092 | chr5:46035363-46035364 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs183017525 | chr5:46035387-46035388 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs576853208 | chr5:46035393-46035394 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs545828696 | chr5:46035427-46035428 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs139876547 | chr5:46035435-46035436 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs532077955 | chr5:46035440-46035441 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs542554424 | chr5:46035441-46035442 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs186185831 | chr5:46035456-46035457 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs527891868 | chr5:46035468-46035469 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs75906236 | chr5:46035498-46035499 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs570966710 | chr5:46035511-46035512 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs533265557 | chr5:46035516-46035517 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs191429640 | chr5:46035560-46035561 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs569702012 | chr5:46035561-46035562 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs549759756 | chr5:46035562-46035563 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs535426286 | chr5:46035575-46035576 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs113261046 | chr5:46035577-46035578 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs528275860 | chr5:46035582-46035583 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs112642264 | chr5:46035588-46035589 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs567970458 | chr5:46035591-46035592 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs534030799 | chr5:46035610-46035611 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs553681037 | chr5:46035611-46035612 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs182454482 | chr5:46035636-46035637 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs143128770 | chr5:46035637-46035638 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs373136026 | chr5:46035638-46035639 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs111480557 | chr5:46035654-46035655 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs111260959 | chr5:46035664-46035665 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs556189601 | chr5:46035671-46035672 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs187927094 | chr5:46035674-46035675 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs541799114 | chr5:46035675-46035676 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs376069404 | chr5:46035702-46035703 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs369235705 | chr5:46035714-46035715 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs373480642 | chr5:46035715-46035716 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs541658537 | chr5:46035722-46035723 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs564502607 | chr5:46035733-46035734 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Cervical cancer | 18559093 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Gastric cancer | 22152101 | CNVD |
| Oesophago-gastric ulcer | 22152101 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| DNA damage stimulus | 22844521 | CNVD |
| DNA repair | 22844521 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Spinal muscular atrophy | 22422766 | CNVD |
| Spinal muscular atrophy | 22558076 | CNVD |
| Spinal muscular atrophy | 21320981 | CNVD |
| Spinal muscular atrophy | 21762474 | CNVD |
| Cancer | 16751803 | CNVD |
| Autism | 22495311 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cervical squamous cell carcinoma | 21590768 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 21359685 | CNVD |
| adenomatous polyposis | 22470819 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Medulloblastoma | 21163964 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:46033200-46038200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr5:46035200-46036000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 3 | chr5:46039000-46039800 | ZNF genes & repeats | Liver | Liver |
| 4 | chr5:46041000-46045400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr5:46042000-46043400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 6 | chr5:46042800-46043800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 7 | chr5:46048800-46067200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr5:46050000-46062400 | ZNF genes & repeats | Liver | Liver |
| 9 | chr5:46050800-46056000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 10 | chr5:46053000-46053600 | Active TSS | Right Atrium | heart |
| 11 | chr5:46058800-46064400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 12 | chr5:46061200-46064200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 13 | chr5:46066200-46067200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 14 | chr5:46067800-46073000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 15 | chr5:46068400-46069600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 16 | chr5:46068400-46069800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 17 | chr5:46071000-46082400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 18 | chr5:46071600-46075400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 19 | chr5:46073400-46075800 | ZNF genes & repeats | Liver | Liver |
| 20 | chr5:46075600-46077000 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 21 | chr5:46077000-46079800 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 22 | chr5:46081600-46082600 | Active TSS | Fetal Heart | heart |
| 23 | chr5:46083400-46093800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 24 | chr5:46083600-46093600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 25 | chr5:46083800-46084600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 26 | chr5:46084000-46085200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 27 | chr5:46089200-46090400 | Active TSS | Aorta | Aorta |
| 28 | chr5:46090600-46093600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 29 | chr5:46091200-46093400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 30 | chr5:46093800-46096600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 31 | chr5:46099600-46101800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 32 | chr5:46109600-46110000 | Active TSS | Fetal Heart | heart |
| 33 | chr5:46113800-46114400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 34 | chr5:46116400-46118000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 35 | chr5:46118800-46127400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 36 | chr5:46120200-46123000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 37 | chr5:46121400-46124000 | ZNF genes & repeats | Liver | Liver |
| 38 | chr5:46127800-46129400 | ZNF genes & repeats | Liver | Liver |
| 39 | chr5:46129000-46129400 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 40 | chr5:46130800-46131600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 41 | chr5:46131000-46131600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 42 | chr5:46138600-46140600 | ZNF genes & repeats | Liver | Liver |
| 43 | chr5:46140800-46144000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 44 | chr5:46146200-46152200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 45 | chr5:46146400-46148800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 46 | chr5:46147800-46151200 | ZNF genes & repeats | Liver | Liver |
| 47 | chr5:46148400-46152000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 48 | chr5:46149800-46150200 | ZNF genes & repeats | Psoas Muscle | Psoas |
| 49 | chr5:46150600-46152000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 50 | chr5:46152600-46154000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
