Variant report
| Variant | nsv1034167 |
|---|---|
| Chromosome Location | chr5:45962084-46334867 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:175202235..175203755-chr5:46204424..46205944,2 | MCF-7 | breast: | |
| 2 | chr4:68265057..68265577-chr5:46205420..46205943,2 | MCF-7 | breast: | |
| 3 | chr1:63102529..63105125-chr5:46100658..46103318,2 | MCF-7 | breast: | |
| 4 | chr1:121483702..121485225-chr5:46334811..46336331,2 | 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 | rs560385405 | chr5:45962088-45962089 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs577010100 | chr5:45962089-45962090 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs545935208 | chr5:45962090-45962091 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs369905499 | chr5:45962091-45962092 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370753489 | chr5:45962101-45962102 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs547802724 | chr5:45962112-45962113 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs376942421 | chr5:45962121-45962122 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs547825186 | chr5:45962122-45962123 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs182218708 | chr5:45962140-45962141 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs187148721 | chr5:45962146-45962147 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs112469660 | chr5:45962162-45962163 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs141939658 | chr5:45962164-45962165 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs192489913 | chr5:45962198-45962199 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs552667310 | chr5:45962199-45962200 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs559922451 | chr5:45963018-45963019 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs4490592 | chr5:45963019-45963020 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 17 | rs376497523 | chr5:45963033-45963034 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs565190306 | chr5:45963051-45963052 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs369477117 | chr5:45963088-45963089 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs200127684 | chr5:45963106-45963107 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189402054 | chr5:45963125-45963126 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs569635926 | chr5:45963138-45963139 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs569457095 | chr5:45963170-45963171 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs181967824 | chr5:45963172-45963173 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs548992341 | chr5:45963174-45963175 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs532469252 | chr5:45963196-45963197 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs10038082 | chr5:45963250-45963251 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs534513183 | chr5:45963255-45963256 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs147620510 | chr5:45963259-45963260 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs555448873 | chr5:45963266-45963267 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs577771815 | chr5:45963279-45963280 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs142394838 | chr5:45963293-45963294 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs569044726 | chr5:45963300-45963301 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs534650532 | chr5:45963323-45963324 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs553279769 | chr5:45963358-45963359 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs34004002 | chr5:45963367-45963368 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs78755399 | chr5:45963371-45963372 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs556965580 | chr5:45963388-45963389 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs573654263 | chr5:45963440-45963441 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs76980568 | chr5:45963444-45963445 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs559784334 | chr5:45963453-45963454 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs575483433 | chr5:45963479-45963480 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs141412052 | chr5:45963492-45963493 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs35342784 | chr5:45963507-45963508 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs4502837 | chr5:45963509-45963510 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs565397353 | chr5:45963596-45963597 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs207466024 | chr5:45963617-45963618 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs112088974 | chr5:45963631-45963632 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs369024549 | chr5:45963633-45963634 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs572502875 | chr5:45963645-45963646 | 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 |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Medulloblastoma | 21163964 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:45951600-45962200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr5:45963000-45966800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 3 | chr5:45963200-45968200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 4 | chr5:45964600-45967800 | ZNF genes & repeats | Liver | Liver |
| 5 | chr5:45964800-45968000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 6 | chr5:45965400-45965600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr5:45966400-45968000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr5:45966600-45968600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 9 | chr5:45970000-45972600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 10 | chr5:45974600-45975200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 11 | chr5:45975000-45975800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 12 | chr5:45982800-45984800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 13 | chr5:45983200-45984400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 14 | chr5:45984200-45987000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 15 | chr5:45987000-45991600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 16 | chr5:45987200-45987400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 17 | chr5:45987400-45988200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 18 | chr5:45988000-45988200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 19 | chr5:45990400-45999400 | ZNF genes & repeats | Liver | Liver |
| 20 | chr5:45993000-45998800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 21 | chr5:45994000-45994600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 22 | chr5:45994200-45997200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 23 | chr5:45997400-45997600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 24 | chr5:45998800-45999600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 25 | chr5:46010200-46013000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 26 | chr5:46010600-46014400 | ZNF genes & repeats | Liver | Liver |
| 27 | chr5:46011800-46016800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 28 | chr5:46014000-46019000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 29 | chr5:46016600-46020200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 30 | chr5:46017400-46018800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 31 | chr5:46018000-46028600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 32 | chr5:46018200-46021800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 33 | chr5:46019000-46022600 | ZNF genes & repeats | Liver | Liver |
| 34 | chr5:46021600-46022000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 35 | chr5:46022600-46024000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 36 | chr5:46027600-46028000 | Active TSS | Fetal Heart | heart |
| 37 | chr5:46030000-46030600 | Active TSS | Fetal Heart | heart |
| 38 | chr5:46033200-46038200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 39 | chr5:46033800-46034600 | ZNF genes & repeats | Liver | Liver |
| 40 | chr5:46035200-46036000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 41 | chr5:46039000-46039800 | ZNF genes & repeats | Liver | Liver |
| 42 | chr5:46041000-46045400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 43 | chr5:46042000-46043400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 44 | chr5:46042800-46043800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 45 | chr5:46048800-46067200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 46 | chr5:46050000-46062400 | ZNF genes & repeats | Liver | Liver |
| 47 | chr5:46050800-46056000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 48 | chr5:46053000-46053600 | Active TSS | Right Atrium | heart |
| 49 | chr5:46058800-46064400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 50 | chr5:46061200-46064200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
