Variant report
| Variant | nsv898982 |
|---|---|
| Chromosome Location | chr12:38015951-38446861 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:16)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:16 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:38032912..38033432-chr6:58774035..58775015,2 | MCF-7 | breast: | |
| 2 | chr12:38444870..38446430-chr16:33959034..33960923,3 | MCF-7 | breast: | |
| 3 | chr12:38032931..38033431-chr6:58776879..58777388,2 | MCF-7 | breast: | |
| 4 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: | |
| 5 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 6 | chr12:38444887..38445591-chr16:33959228..33959997,3 | MCF-7 | breast: | |
| 7 | chr12:38444306..38445077-chr21:37485779..37486279,2 | MCF-7 | breast: | |
| 8 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: | |
| 9 | chr12:38444806..38446368-chr16:33959419..33960990,2 | MCF-7 | breast: | |
| 10 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 11 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 12 | chr12:38444597..38445444-chr16:33958723..33959994,4 | MCF-7 | breast: | |
| 13 | chr12:38444870..38446396-chr2:133021688..133023192,2 | K562 | blood: | |
| 14 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 15 | chr12:38444829..38445449-chr2:133022690..133023552,2 | MCF-7 | breast: | |
| 16 | chr12:38092578..38093097-chr2:92306640..92307159,2 | 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 | rs367590525 | chr12:38015951-38015952 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs2867939 | chr12:38015963-38015964 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs370211219 | chr12:38015965-38015966 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs376171989 | chr12:38015968-38015969 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs2867941 | chr12:38015972-38015973 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs2867942 | chr12:38015974-38015975 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs558874139 | chr12:38015977-38015978 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs376013347 | chr12:38015981-38015982 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs2867943 | chr12:38015986-38015987 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs182348636 | chr12:38015988-38015989 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs373805332 | chr12:38015995-38015996 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs368582583 | chr12:38015997-38015998 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201516317 | chr12:38015998-38015999 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs113312382 | chr12:38016011-38016012 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs372340895 | chr12:38016013-38016014 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs189100362 | chr12:38016014-38016015 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs375530510 | chr12:38016018-38016019 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs368495605 | chr12:38016022-38016023 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs371591357 | chr12:38016031-38016032 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs376189102 | chr12:38016032-38016033 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs369207419 | chr12:38016033-38016034 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs367919786 | chr12:38016038-38016039 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs373145556 | chr12:38016039-38016040 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs375655382 | chr12:38016041-38016042 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs572368744 | chr12:38016042-38016043 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs376670933 | chr12:38016043-38016044 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs369884640 | chr12:38016050-38016051 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs374657850 | chr12:38016051-38016052 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs541672512 | chr12:38016052-38016053 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs375097891 | chr12:38016053-38016054 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs200103632 | chr12:38016054-38016055 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs376652388 | chr12:38016055-38016056 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs371253183 | chr12:38016056-38016057 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs372783624 | chr12:38016057-38016058 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs369960674 | chr12:38016059-38016060 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs373202343 | chr12:38016066-38016067 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs530315988 | chr12:38016067-38016068 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs377139900 | chr12:38016074-38016075 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs370542554 | chr12:38016079-38016080 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs113098336 | chr12:38016083-38016084 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs367841468 | chr12:38016098-38016099 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs370887957 | chr12:38016102-38016103 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs191940895 | chr12:38016105-38016106 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs544060754 | chr12:38016111-38016112 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs563357850 | chr12:38016121-38016122 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs532199709 | chr12:38016123-38016124 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs375560537 | chr12:38016124-38016125 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs368274328 | chr12:38016127-38016128 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs372522141 | chr12:38016130-38016131 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs112717052 | chr12:38016131-38016132 | 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 | chr12:38008800-38016200 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
| 4 | chr12:38009400-38016200 | Weak transcription | Small Intestine | intestine |
| 5 | chr12:38012000-38016200 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
| 6 | chr12:38012200-38031600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr12:38013600-38016200 | Weak transcription | Ovary | ovary |
| 8 | chr12:38013800-38016200 | Weak transcription | NH-A | brain |
| 9 | chr12:38014400-38016000 | Weak transcription | Stomach Mucosa | stomach |
| 10 | chr12:38014400-38016200 | Weak transcription | Osteobl | bone |
| 11 | chr12:38014400-38017600 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 12 | chr12:38015200-38016200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 13 | chr12:38015200-38016200 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
| 14 | chr12:38015200-38016200 | Weak transcription | Psoas Muscle | Psoas |
| 15 | chr12:38015800-38017400 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
| 16 | chr12:38016000-38017000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 17 | chr12:38016000-38018400 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
| 18 | chr12:38016200-38016400 | Flanking Bivalent TSS/Enh | Primary mononuclear cells fromperipheralblood | Blood |
| 19 | chr12:38016200-38016400 | ZNF genes & repeats | Thymus | Thymus |
| 20 | chr12:38016200-38016600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 21 | chr12:38016200-38016600 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 22 | chr12:38016200-38016600 | ZNF genes & repeats | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 23 | chr12:38016200-38016600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
| 24 | chr12:38016200-38016600 | ZNF genes & repeats | Primary T killer naive cells fromperipheralblood | blood |
| 25 | chr12:38016200-38016600 | ZNF genes & repeats | Muscle Satellite Cultured Cells | -- |
| 26 | chr12:38016200-38016600 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |
| 27 | chr12:38016200-38016600 | Bivalent/Poised TSS | Aorta | Aorta |
| 28 | chr12:38016200-38016600 | ZNF genes & repeats | Liver | Liver |
| 29 | chr12:38016200-38016600 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 30 | chr12:38016200-38016600 | ZNF genes & repeats | Fetal Lung | lung |
| 31 | chr12:38016200-38016600 | ZNF genes & repeats | Ovary | ovary |
| 32 | chr12:38016200-38016600 | ZNF genes & repeats | Placenta Amnion | Placenta Amnion |
| 33 | chr12:38016200-38016600 | ZNF genes & repeats | Psoas Muscle | Psoas |
| 34 | chr12:38016200-38016600 | ZNF genes & repeats | Small Intestine | intestine |
| 35 | chr12:38016200-38016600 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 36 | chr12:38016200-38016800 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 37 | chr12:38016200-38016800 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
| 38 | chr12:38016200-38017400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 39 | chr12:38016200-38017400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 40 | chr12:38016200-38017400 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
| 41 | chr12:38016200-38017400 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 42 | chr12:38016200-38017400 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 43 | chr12:38016200-38017400 | ZNF genes & repeats | Gastric | stomach |
| 44 | chr12:38016200-38017400 | ZNF genes & repeats | Left Ventricle | heart |
| 45 | chr12:38016200-38017400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 46 | chr12:38016200-38017400 | ZNF genes & repeats | Sigmoid Colon | Sigmoid Colon |
| 47 | chr12:38016200-38017400 | ZNF genes & repeats | Dnd41 | blood |
| 48 | chr12:38016200-38017400 | ZNF genes & repeats | NH-A | brain |
| 49 | chr12:38016200-38017400 | ZNF genes & repeats | Osteobl | bone |
| 50 | chr12:38016200-38017600 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
