Variant report
| Variant | nsv1033036 |
|---|---|
| Chromosome Location | chr5:45953688-46334867 |
| 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 | chr1:121483702..121485225-chr5:46334811..46336331,2 | MCF-7 | breast: | |
| 2 | chr4:68265057..68265577-chr5:46205420..46205943,2 | MCF-7 | breast: | |
| 3 | chr1:175202235..175203755-chr5:46204424..46205944,2 | MCF-7 | breast: | |
| 4 | chr1:63102529..63105125-chr5:46100658..46103318,2 | 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 | rs529642183 | chr5:45953710-45953711 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs367611829 | chr5:45953718-45953719 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs73101814 | chr5:45953738-45953739 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs80016080 | chr5:45953764-45953765 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs548196259 | chr5:45953768-45953769 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs79187621 | chr5:45953815-45953816 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs74959613 | chr5:45953818-45953819 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs569039006 | chr5:45953834-45953835 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537632004 | chr5:45953848-45953849 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs548296510 | chr5:45953867-45953868 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs372306731 | chr5:45953883-45953884 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs568060982 | chr5:45953885-45953886 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs566366548 | chr5:45953893-45953894 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs533827743 | chr5:45953897-45953898 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs143918743 | chr5:45953915-45953916 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs370708467 | chr5:45953938-45953939 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs149174224 | chr5:45953939-45953940 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs148072311 | chr5:45953940-45953941 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs375086767 | chr5:45953941-45953942 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs111359230 | chr5:45953943-45953944 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs142201587 | chr5:45953948-45953949 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs112582562 | chr5:45953950-45953951 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs376810451 | chr5:45953954-45953955 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs144729541 | chr5:45953958-45953959 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs113295944 | chr5:45953961-45953962 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs62372038 | chr5:45953965-45953966 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs113136469 | chr5:45953969-45953970 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs553303081 | chr5:45953975-45953976 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs140012530 | chr5:45953979-45953980 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs146449587 | chr5:45953989-45953990 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs577139192 | chr5:45953990-45953991 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs62372039 | chr5:45953994-45953995 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs200790300 | chr5:45953995-45953996 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs539707823 | chr5:45954003-45954004 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs190252062 | chr5:45954004-45954005 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs556422588 | chr5:45954016-45954017 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs576603813 | chr5:45954017-45954018 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs542054889 | chr5:45954018-45954019 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs62372040 | chr5:45954028-45954029 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs371467771 | chr5:45954032-45954033 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs373012238 | chr5:45954042-45954043 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs376256794 | chr5:45954048-45954049 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs558439679 | chr5:45954055-45954056 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs4441884 | chr5:45954056-45954057 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs148122702 | chr5:45954061-45954062 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs368911913 | chr5:45954062-45954063 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs532465363 | chr5:45954066-45954067 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs371762713 | chr5:45954080-45954081 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs552542479 | chr5:45954086-45954087 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs199820070 | chr5:45954092-45954093 | 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 | chr5:45942800-45954200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 2 | chr5:45951600-45962200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr5:45951800-45956800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 4 | chr5:45954800-45955400 | Active TSS | Right Atrium | heart |
| 5 | chr5:45955200-45955400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 6 | chr5:45956200-45957800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 7 | chr5:45956600-45957000 | Active TSS | Fetal Heart | heart |
| 8 | chr5:45957200-45958400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr5:45959600-45959800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr5:45960800-45961600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 11 | chr5:45963000-45966800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 12 | chr5:45963200-45968200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 13 | chr5:45964600-45967800 | ZNF genes & repeats | Liver | Liver |
| 14 | chr5:45964800-45968000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 15 | chr5:45965400-45965600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 16 | chr5:45966400-45968000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 17 | chr5:45966600-45968600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 18 | chr5:45970000-45972600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 19 | chr5:45974600-45975200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 20 | chr5:45975000-45975800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 21 | chr5:45982800-45984800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 22 | chr5:45983200-45984400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 23 | chr5:45984200-45987000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 24 | chr5:45987000-45991600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 25 | chr5:45987200-45987400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 26 | chr5:45987400-45988200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 27 | chr5:45988000-45988200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 28 | chr5:45990400-45999400 | ZNF genes & repeats | Liver | Liver |
| 29 | chr5:45993000-45998800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 30 | chr5:45994000-45994600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 31 | chr5:45994200-45997200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 32 | chr5:45997400-45997600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 33 | chr5:45998800-45999600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 34 | chr5:46010200-46013000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 35 | chr5:46010600-46014400 | ZNF genes & repeats | Liver | Liver |
| 36 | chr5:46011800-46016800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 37 | chr5:46014000-46019000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 38 | chr5:46016600-46020200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 39 | chr5:46017400-46018800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 40 | chr5:46018000-46028600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 41 | chr5:46018200-46021800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 42 | chr5:46019000-46022600 | ZNF genes & repeats | Liver | Liver |
| 43 | chr5:46021600-46022000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 44 | chr5:46022600-46024000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 45 | chr5:46027600-46028000 | Active TSS | Fetal Heart | heart |
| 46 | chr5:46030000-46030600 | Active TSS | Fetal Heart | heart |
| 47 | chr5:46033200-46038200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 48 | chr5:46033800-46034600 | ZNF genes & repeats | Liver | Liver |
| 49 | chr5:46035200-46036000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 50 | chr5:46039000-46039800 | ZNF genes & repeats | Liver | Liver |
