Variant report
| Variant | nsv1025907 |
|---|---|
| Chromosome Location | chr5:45931038-46389261 |
| 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 | chr17:57915525..57918399-chr5:46361638..46364174,2 | 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 | chr1:121483702..121485225-chr5:46334811..46336331,2 | MCF-7 | breast: | |
| 5 | 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 | rs73100259 | chr5:45931052-45931053 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs541086763 | chr5:45931067-45931068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs573967987 | chr5:45931076-45931077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541766765 | chr5:45931077-45931078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs369667042 | chr5:45931078-45931079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs148964126 | chr5:45931080-45931081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs527503479 | chr5:45931081-45931082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs541190474 | chr5:45931089-45931090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564255775 | chr5:45931122-45931123 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs187944051 | chr5:45931136-45931137 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs549840804 | chr5:45931149-45931150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs569562480 | chr5:45931160-45931161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs191943667 | chr5:45931168-45931169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs183709383 | chr5:45931169-45931170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs565999891 | chr5:45931172-45931173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs62372026 | chr5:45931204-45931205 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs577522723 | chr5:45931226-45931227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs544727514 | chr5:45931231-45931232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs563567040 | chr5:45931246-45931247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs571504025 | chr5:45931249-45931250 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs537188843 | chr5:45931257-45931258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs557384562 | chr5:45931258-45931259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs188341626 | chr5:45931268-45931269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs542979141 | chr5:45931275-45931276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs542963823 | chr5:45931276-45931277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs368789182 | chr5:45931302-45931303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs555713843 | chr5:45931315-45931316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs572402525 | chr5:45931343-45931344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs541307916 | chr5:45931384-45931385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs564317068 | chr5:45931404-45931405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs372947419 | chr5:45931412-45931413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs577729668 | chr5:45931423-45931424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs192426823 | chr5:45931424-45931425 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs190293448 | chr5:45931437-45931438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs185564906 | chr5:45931456-45931457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs528898723 | chr5:45931466-45931467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs190079826 | chr5:45931533-45931534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs558901763 | chr5:45931566-45931567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs372931163 | chr5:45931567-45931568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs528807094 | chr5:45931582-45931583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs551649316 | chr5:45931590-45931591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs571756838 | chr5:45931618-45931619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs537604088 | chr5:45931631-45931632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs550816111 | chr5:45931632-45931633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs567714055 | chr5:45931634-45931635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs536726665 | chr5:45931642-45931643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs553428446 | chr5:45931649-45931650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs199676129 | chr5:45931654-45931655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs573269181 | chr5:45931666-45931667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs534928246 | chr5:45931668-45931669 | Weak transcription | 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 | chr5:45931000-45933400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr5:45933400-45933600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr5:45934200-45935400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 4 | chr5:45934400-45935000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr5:45935600-45936200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 6 | chr5:45936200-45936400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 7 | chr5:45942800-45950000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr5:45942800-45954200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 9 | chr5:45943000-45943600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 10 | chr5:45946200-45953200 | ZNF genes & repeats | Liver | Liver |
| 11 | chr5:45947200-45950000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 12 | chr5:45948600-45950000 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 13 | chr5:45949400-45950800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 14 | chr5:45950800-45951000 | ZNF genes & repeats | Psoas Muscle | Psoas |
| 15 | chr5:45951600-45962200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 16 | chr5:45951800-45956800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 17 | chr5:45954800-45955400 | Active TSS | Right Atrium | heart |
| 18 | chr5:45955200-45955400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 19 | chr5:45956200-45957800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 20 | chr5:45956600-45957000 | Active TSS | Fetal Heart | heart |
| 21 | chr5:45957200-45958400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 22 | chr5:45959600-45959800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 23 | chr5:45960800-45961600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 24 | chr5:45963000-45966800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 25 | chr5:45963200-45968200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 26 | chr5:45964600-45967800 | ZNF genes & repeats | Liver | Liver |
| 27 | chr5:45964800-45968000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 28 | chr5:45965400-45965600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 29 | chr5:45966400-45968000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 30 | chr5:45966600-45968600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 31 | chr5:45970000-45972600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 32 | chr5:45974600-45975200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 33 | chr5:45975000-45975800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 34 | chr5:45982800-45984800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 35 | chr5:45983200-45984400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 36 | chr5:45984200-45987000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 37 | chr5:45987000-45991600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 38 | chr5:45987200-45987400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 39 | chr5:45987400-45988200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 40 | chr5:45988000-45988200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 41 | chr5:45990400-45999400 | ZNF genes & repeats | Liver | Liver |
| 42 | chr5:45993000-45998800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 43 | chr5:45994000-45994600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 44 | chr5:45994200-45997200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 45 | chr5:45997400-45997600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 46 | chr5:45998800-45999600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 47 | chr5:46010200-46013000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 48 | chr5:46010600-46014400 | ZNF genes & repeats | Liver | Liver |
| 49 | chr5:46011800-46016800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 50 | chr5:46014000-46019000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
