Variant report
| Variant | nsv1051196 |
|---|---|
| Chromosome Location | chr12:38034346-38447205 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:13)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:13 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:38444887..38445591-chr16:33959228..33959997,3 | MCF-7 | breast: | |
| 2 | chr12:38444829..38445449-chr2:133022690..133023552,2 | MCF-7 | breast: | |
| 3 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: | |
| 4 | chr12:38444597..38445444-chr16:33958723..33959994,4 | MCF-7 | breast: | |
| 5 | chr12:38444870..38446430-chr16:33959034..33960923,3 | MCF-7 | breast: | |
| 6 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 7 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 8 | chr12:38447143..38447662-chr2:133026232..133026787,2 | MCF-7 | breast: | |
| 9 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 10 | chr12:38444306..38445077-chr21:37485779..37486279,2 | MCF-7 | breast: | |
| 11 | chr12:38444806..38446368-chr16:33959419..33960990,2 | MCF-7 | breast: | |
| 12 | chr12:38444870..38446396-chr2:133021688..133023192,2 | K562 | blood: | |
| 13 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000175548 | chromatin interactions |
| ENSG00000163659 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs202204207 | chr12:38034348-38034349 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs572033087 | chr12:38034355-38034356 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs61923690 | chr12:38034357-38034358 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs148150397 | chr12:38034359-38034360 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs572536819 | chr12:38034360-38034361 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs61923691 | chr12:38034367-38034368 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs540781135 | chr12:38034368-38034369 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs139245851 | chr12:38034371-38034372 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs560937845 | chr12:38034373-38034374 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs61923692 | chr12:38034384-38034385 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs529380828 | chr12:38034391-38034392 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs542804077 | chr12:38034392-38034393 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562880980 | chr12:38034397-38034398 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs531700945 | chr12:38034399-38034400 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs61923693 | chr12:38034404-38034405 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs551818793 | chr12:38034406-38034407 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs571920371 | chr12:38034408-38034409 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs375484623 | chr12:38034422-38034423 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs370904873 | chr12:38034425-38034426 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs373689694 | chr12:38034432-38034433 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs367721146 | chr12:38034433-38034434 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs372176726 | chr12:38034435-38034436 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs376769500 | chr12:38034436-38034437 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs368267635 | chr12:38034439-38034440 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs543122724 | chr12:38034444-38034445 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs371865323 | chr12:38034451-38034452 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs369558472 | chr12:38034460-38034461 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs375251564 | chr12:38034462-38034463 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs61923694 | chr12:38034463-38034464 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs61923695 | chr12:38034469-38034470 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs369220051 | chr12:38034471-38034472 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs527998945 | chr12:38034477-38034478 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs373356705 | chr12:38034478-38034479 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs374797491 | chr12:38034479-38034480 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs369191975 | chr12:38034483-38034484 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs61923696 | chr12:38034485-38034486 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs377708509 | chr12:38034491-38034492 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs371386748 | chr12:38034496-38034497 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs374128665 | chr12:38034497-38034498 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs377686899 | chr12:38034505-38034506 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs11514160 | chr12:38034506-38034507 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs200597292 | chr12:38034521-38034522 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs373435767 | chr12:38034523-38034524 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs370373869 | chr12:38034538-38034539 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs374796392 | chr12:38034539-38034540 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs61923697 | chr12:38034548-38034549 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs536322786 | chr12:38034549-38034550 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs189398094 | chr12:38034551-38034552 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs376357990 | chr12:38034552-38034553 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs61923698 | chr12:38034555-38034556 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| Cancer | 21272361 | 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 | chr12:38026800-38038800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr12:38029200-38035000 | Weak transcription | Primary T killer naive cells fromperipheralblood | blood |
| 5 | chr12:38029200-38035000 | Weak transcription | Ovary | ovary |
| 6 | chr12:38029200-38035000 | Weak transcription | Thymus | Thymus |
| 7 | chr12:38029200-38035000 | Weak transcription | K562 | blood |
| 8 | chr12:38029200-38035000 | Weak transcription | NHDF-Ad | bronchial |
| 9 | chr12:38029200-38038000 | Weak transcription | NHEK | skin |
| 10 | chr12:38029400-38035000 | Weak transcription | Hela-S3 | cervix |
| 11 | chr12:38031000-38034600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 12 | chr12:38031600-38035000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 13 | chr12:38032000-38041000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 14 | chr12:38032600-38035000 | Weak transcription | Colon Smooth Muscle | Colon |
| 15 | chr12:38032600-38035000 | Weak transcription | HSMMtube | muscle |
| 16 | chr12:38032800-38035000 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
| 17 | chr12:38033200-38038600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 18 | chr12:38033400-38035600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 19 | chr12:38033600-38035800 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 20 | chr12:38033800-38035000 | Weak transcription | HUVEC | blood vessel |
| 21 | chr12:38034200-38038800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 22 | chr12:38034400-38035000 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
| 23 | chr12:38034600-38035800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 24 | chr12:38034600-38036000 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 25 | chr12:38034600-38038600 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 26 | chr12:38034800-38036600 | ZNF genes & repeats | HepG2 | liver |
| 27 | chr12:38035000-38035200 | ZNF genes & repeats | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 28 | chr12:38035000-38035200 | Flanking Bivalent TSS/Enh | Primary T helper naive cells from peripheral blood | blood |
| 29 | chr12:38035000-38035200 | ZNF genes & repeats | Primary T killer naive cells fromperipheralblood | blood |
| 30 | chr12:38035000-38035200 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
| 31 | chr12:38035000-38035200 | ZNF genes & repeats | Ganglion Eminence derived primary cultured neurospheres | brain |
| 32 | chr12:38035000-38035200 | ZNF genes & repeats | Ovary | ovary |
| 33 | chr12:38035000-38035200 | ZNF genes & repeats | Rectal Mucosa Donor 29 | rectum |
| 34 | chr12:38035000-38035200 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 35 | chr12:38035000-38035200 | ZNF genes & repeats | Thymus | Thymus |
| 36 | chr12:38035000-38035200 | ZNF genes & repeats | Dnd41 | blood |
| 37 | chr12:38035000-38035200 | ZNF genes & repeats | Hela-S3 | cervix |
| 38 | chr12:38035000-38035200 | ZNF genes & repeats | HSMMtube | muscle |
| 39 | chr12:38035000-38035200 | ZNF genes & repeats | NH-A | brain |
| 40 | chr12:38035000-38035200 | ZNF genes & repeats | NHDF-Ad | bronchial |
| 41 | chr12:38035000-38035400 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 42 | chr12:38035000-38035400 | ZNF genes & repeats | GM12878-XiMat | blood |
| 43 | chr12:38035000-38035600 | ZNF genes & repeats | Muscle Satellite Cultured Cells | -- |
| 44 | chr12:38035000-38035600 | ZNF genes & repeats | Fetal Kidney | kidney |
| 45 | chr12:38035000-38035600 | ZNF genes & repeats | Psoas Muscle | Psoas |
| 46 | chr12:38035000-38035800 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 47 | chr12:38035000-38035800 | ZNF genes & repeats | Liver | Liver |
| 48 | chr12:38035000-38035800 | ZNF genes & repeats | Colon Smooth Muscle | Colon |
| 49 | chr12:38035000-38035800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 50 | chr12:38035000-38035800 | ZNF genes & repeats | HUVEC | blood vessel |
