Variant report
| Variant | nsv1040099 |
|---|---|
| Chromosome Location | chr12:38014006-38346916 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:9 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: | |
| 2 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 3 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 4 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: | |
| 5 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 6 | chr12:38032912..38033432-chr6:58774035..58775015,2 | MCF-7 | breast: | |
| 7 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 8 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 9 | chr12:38032931..38033431-chr6:58776879..58777388,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000163659 | chromatin interactions |
| ENSG00000175548 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs543921587 | chr12:38014018-38014019 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs183434251 | chr12:38014028-38014029 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs369780105 | chr12:38014049-38014050 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs528815181 | chr12:38014050-38014051 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200427446 | chr12:38014055-38014056 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs532795514 | chr12:38014084-38014085 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201118907 | chr12:38014092-38014093 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs199708854 | chr12:38014095-38014096 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs546834204 | chr12:38014096-38014097 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs113008893 | chr12:38014116-38014117 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs113486017 | chr12:38014128-38014129 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs112545938 | chr12:38014142-38014143 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs144444018 | chr12:38014146-38014147 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs537507740 | chr12:38014148-38014149 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs199645635 | chr12:38014150-38014151 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs112461369 | chr12:38014165-38014166 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs551115501 | chr12:38014167-38014168 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs377218766 | chr12:38014185-38014186 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs190938036 | chr12:38014206-38014207 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs539457833 | chr12:38014211-38014212 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs559240436 | chr12:38014231-38014232 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs569055751 | chr12:38014268-38014269 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs200780571 | chr12:38014273-38014274 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs371677406 | chr12:38014298-38014299 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs573501984 | chr12:38014301-38014302 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs536023461 | chr12:38014330-38014331 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs555508273 | chr12:38014350-38014351 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs370781972 | chr12:38014353-38014354 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs56047897 | chr12:38014369-38014370 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs202068336 | chr12:38014372-38014373 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs563850195 | chr12:38014377-38014378 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs112827038 | chr12:38014378-38014379 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs112627410 | chr12:38014389-38014390 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs60933361 | chr12:38014397-38014398 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs182105602 | chr12:38014400-38014401 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs186783562 | chr12:38014407-38014408 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs529208773 | chr12:38014409-38014410 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs61922130 | chr12:38014410-38014411 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs61922131 | chr12:38014425-38014426 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs200709158 | chr12:38014439-38014440 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs201684999 | chr12:38014441-38014442 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs376427808 | chr12:38014446-38014447 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs61922132 | chr12:38014448-38014449 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs549313632 | chr12:38014455-38014456 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs562644715 | chr12:38014459-38014460 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs61922133 | chr12:38014474-38014475 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs61922134 | chr12:38014479-38014480 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs111227053 | chr12:38014482-38014483 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs61922135 | chr12:38014483-38014484 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs531537899 | chr12:38014489-38014490 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Autism | 20858243 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:37989800-38041200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 2 | chr12:37990000-38040800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 3 | chr12:38008800-38016200 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
| 4 | chr12:38009400-38016200 | Weak transcription | Small Intestine | intestine |
| 5 | chr12:38011200-38014800 | ZNF genes & repeats | HepG2 | liver |
| 6 | chr12:38012000-38016200 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
| 7 | chr12:38012200-38031600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 8 | chr12:38013600-38016200 | Weak transcription | Ovary | ovary |
| 9 | chr12:38013800-38016200 | Weak transcription | NH-A | brain |
| 10 | chr12:38014000-38014800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 11 | chr12:38014000-38014800 | Weak transcription | Psoas Muscle | Psoas |
| 12 | chr12:38014000-38015000 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
| 13 | chr12:38014200-38015800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 14 | chr12:38014400-38016000 | Weak transcription | Stomach Mucosa | stomach |
| 15 | chr12:38014400-38016200 | Weak transcription | Osteobl | bone |
| 16 | chr12:38014400-38017600 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 17 | chr12:38014800-38015000 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 18 | chr12:38014800-38015200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 19 | chr12:38014800-38015200 | Active TSS | Psoas Muscle | Psoas |
| 20 | chr12:38015000-38015200 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
| 21 | chr12:38015000-38015200 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 22 | chr12:38015200-38016200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 23 | chr12:38015200-38016200 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
| 24 | chr12:38015200-38016200 | Weak transcription | Psoas Muscle | Psoas |
| 25 | chr12:38015800-38017400 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
| 26 | chr12:38016000-38017000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 27 | chr12:38016000-38018400 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
| 28 | chr12:38016200-38016400 | Flanking Bivalent TSS/Enh | Primary mononuclear cells fromperipheralblood | Blood |
| 29 | chr12:38016200-38016400 | ZNF genes & repeats | Thymus | Thymus |
| 30 | chr12:38016200-38016600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 31 | chr12:38016200-38016600 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 32 | chr12:38016200-38016600 | ZNF genes & repeats | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 33 | chr12:38016200-38016600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
| 34 | chr12:38016200-38016600 | ZNF genes & repeats | Primary T killer naive cells fromperipheralblood | blood |
| 35 | chr12:38016200-38016600 | ZNF genes & repeats | Muscle Satellite Cultured Cells | -- |
| 36 | chr12:38016200-38016600 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |
| 37 | chr12:38016200-38016600 | Bivalent/Poised TSS | Aorta | Aorta |
| 38 | chr12:38016200-38016600 | ZNF genes & repeats | Liver | Liver |
| 39 | chr12:38016200-38016600 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 40 | chr12:38016200-38016600 | ZNF genes & repeats | Fetal Lung | lung |
| 41 | chr12:38016200-38016600 | ZNF genes & repeats | Ovary | ovary |
| 42 | chr12:38016200-38016600 | ZNF genes & repeats | Placenta Amnion | Placenta Amnion |
| 43 | chr12:38016200-38016600 | ZNF genes & repeats | Psoas Muscle | Psoas |
| 44 | chr12:38016200-38016600 | ZNF genes & repeats | Small Intestine | intestine |
| 45 | chr12:38016200-38016600 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 46 | chr12:38016200-38016800 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 47 | chr12:38016200-38016800 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
| 48 | chr12:38016200-38017400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 49 | chr12:38016200-38017400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 50 | chr12:38016200-38017400 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
