Variant report
| Variant | nsv900463 |
|---|---|
| Chromosome Location | chr13:69561090-69586193 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr13:69584341..69586393-chr13:69588333..69590253,2 | K562 | blood: | |
| 2 | chr13:69577914..69580803-chr13:69584083..69586306,2 | K562 | blood: | |
| 3 | chr13:69557613..69560490-chr13:69560641..69563029,2 | K562 | blood: | |
| 4 | chr13:69583714..69586393-chr13:69587871..69590253,3 | K562 | blood: | |
| 5 | chr13:69577123..69579403-chr13:69580839..69583998,3 | K562 | blood: | |
| 6 | chr13:69577123..69579403-chr13:69580839..69583998,3 | K562 | blood: | |
| 7 | chr13:69577914..69580803-chr13:69584083..69586306,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000232380 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs6562551 | chr13:69561090-69561091 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs183254670 | chr13:69561097-69561098 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs141402456 | chr13:69561118-69561119 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs561962060 | chr13:69561128-69561129 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs188679702 | chr13:69561135-69561136 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs144621881 | chr13:69561167-69561168 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs115150919 | chr13:69561170-69561171 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs532886845 | chr13:69561183-69561184 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs532779958 | chr13:69561256-69561257 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs34344712 | chr13:69561260-69561261 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs77397853 | chr13:69561261-69561262 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs199560020 | chr13:69561273-69561274 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs74089932 | chr13:69561274-69561275 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs565409321 | chr13:69561275-69561276 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs76419071 | chr13:69561284-69561285 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs114388258 | chr13:69561285-69561286 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs138515731 | chr13:69561348-69561349 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs529222905 | chr13:69561353-69561354 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs549162462 | chr13:69561374-69561375 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs565862422 | chr13:69561422-69561423 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs140203135 | chr13:69561433-69561434 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs150313395 | chr13:69561474-69561475 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs570936002 | chr13:69561556-69561557 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs539405159 | chr13:69561564-69561565 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs556162462 | chr13:69561692-69561693 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs544898803 | chr13:69561716-69561717 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs149985412 | chr13:69561753-69561754 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs549684033 | chr13:69561775-69561776 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs192899788 | chr13:69561817-69561818 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs115291380 | chr13:69561827-69561828 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs116128145 | chr13:69561832-69561833 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs183433177 | chr13:69561843-69561844 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs541650447 | chr13:69561849-69561850 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs12428233 | chr13:69561894-69561895 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs533049503 | chr13:69561908-69561909 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs137978480 | chr13:69561909-69561910 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs114607050 | chr13:69561991-69561992 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs528928666 | chr13:69562009-69562010 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs549274780 | chr13:69562021-69562022 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs566021987 | chr13:69562048-69562049 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs17084446 | chr13:69562061-69562062 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs77688864 | chr13:69562092-69562093 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs149522982 | chr13:69562124-69562125 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs539938089 | chr13:69562142-69562143 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs187921972 | chr13:69562155-69562156 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs569693402 | chr13:69562221-69562222 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs567311883 | chr13:69562304-69562305 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs535504380 | chr13:69562341-69562342 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs555631053 | chr13:69562417-69562418 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs572708581 | chr13:69562451-69562452 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:100)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 21518781 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Intracranial aneurysm | 19064780 | CNVD |
| Breast cancer | 19287154 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Paraganglioma | 21461997 | CNVD |
| Pheochromocytoma | 21461997 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Colorectal cancer | 21586687 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Merkel cell carcinoma | 19020549 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Breast cancer | 22737080 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:69558000-69570200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr13:69559400-69562400 | Weak transcription | Pancreas | Pancrea |
| 3 | chr13:69563600-69563800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr13:69563800-69569800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr13:69564000-69564200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 6 | chr13:69564200-69569400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 7 | chr13:69567400-69567600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 8 | chr13:69569400-69571200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 9 | chr13:69569400-69571800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 10 | chr13:69569600-69571800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 11 | chr13:69569800-69570200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 12 | chr13:69569800-69571200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 13 | chr13:69570200-69570400 | Enhancers | H9 Cell Line | embryonic stem cell |
| 14 | chr13:69570200-69570600 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
| 15 | chr13:69570200-69570600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 16 | chr13:69570200-69571200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 17 | chr13:69570400-69571000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 18 | chr13:69570400-69571000 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 19 | chr13:69570600-69571000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 20 | chr13:69570600-69571200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 21 | chr13:69571000-69571200 | Enhancers | H9 Cell Line | embryonic stem cell |
| 22 | chr13:69583600-69585800 | Active TSS | K562 | blood |
| 23 | chr13:69584400-69584600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 24 | chr13:69584600-69587600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
