Variant report
| Variant | nsv558548 |
|---|---|
| Chromosome Location | chr12:38016922-38403791 |
| 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 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 2 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: | |
| 3 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: | |
| 4 | chr12:38032931..38033431-chr6:58776879..58777388,2 | MCF-7 | breast: | |
| 5 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 6 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 7 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 8 | chr12:38032912..38033432-chr6:58774035..58775015,2 | MCF-7 | breast: | |
| 9 | chr12:38143553..38144054-chr18:18519761..18520264,2 | 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 | rs533130391 | chr12:38016941-38016942 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113230115 | chr12:38017008-38017009 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs546514145 | chr12:38017014-38017015 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs566677936 | chr12:38017016-38017017 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113901781 | chr12:38017026-38017027 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs78474121 | chr12:38017029-38017030 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs143662123 | chr12:38017032-38017033 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs527779844 | chr12:38017033-38017034 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200902880 | chr12:38017040-38017041 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs142495524 | chr12:38017042-38017043 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs140643685 | chr12:38017044-38017045 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs568425508 | chr12:38017046-38017047 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs112858694 | chr12:38017047-38017048 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs557629593 | chr12:38017056-38017057 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs143228334 | chr12:38017064-38017065 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs141232114 | chr12:38017076-38017077 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs183721107 | chr12:38017083-38017084 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs189618138 | chr12:38017104-38017105 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs540007415 | chr12:38017111-38017112 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs201588094 | chr12:38017116-38017117 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs113245286 | chr12:38017117-38017118 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs111953386 | chr12:38017118-38017119 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs553256634 | chr12:38017123-38017124 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs551103859 | chr12:38017124-38017125 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs112196034 | chr12:38017131-38017132 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs182006370 | chr12:38017152-38017153 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs61922145 | chr12:38017154-38017155 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs573120953 | chr12:38017167-38017168 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs541475749 | chr12:38017168-38017169 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs113156213 | chr12:38017169-38017170 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs555051110 | chr12:38017171-38017172 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs546520256 | chr12:38017172-38017173 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs113865134 | chr12:38017179-38017180 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs200831915 | chr12:38017181-38017182 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs113571081 | chr12:38017183-38017184 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs543897068 | chr12:38017193-38017194 | ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs61922146 | chr12:38017205-38017206 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs112398336 | chr12:38017229-38017230 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs202078922 | chr12:38017233-38017234 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs533046604 | chr12:38017236-38017237 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs540542869 | chr12:38017239-38017240 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs547046881 | chr12:38017240-38017241 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs560343512 | chr12:38017243-38017244 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs568232007 | chr12:38017245-38017246 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs112667649 | chr12:38017253-38017254 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs535415854 | chr12:38017257-38017258 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs144021787 | chr12:38017260-38017261 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs200746414 | chr12:38017270-38017271 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs377230915 | chr12:38017285-38017286 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs577057800 | chr12:38017292-38017293 | ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS | 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 | chr12:38012200-38031600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr12:38014400-38017600 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 5 | chr12:38015800-38017400 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
| 6 | chr12:38016000-38017000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr12:38016000-38018400 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
| 8 | chr12:38016200-38017400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 9 | chr12:38016200-38017400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 10 | chr12:38016200-38017400 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
| 11 | chr12:38016200-38017400 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 12 | chr12:38016200-38017400 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 13 | chr12:38016200-38017400 | ZNF genes & repeats | Gastric | stomach |
| 14 | chr12:38016200-38017400 | ZNF genes & repeats | Left Ventricle | heart |
| 15 | chr12:38016200-38017400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 16 | chr12:38016200-38017400 | ZNF genes & repeats | Sigmoid Colon | Sigmoid Colon |
| 17 | chr12:38016200-38017400 | ZNF genes & repeats | Dnd41 | blood |
| 18 | chr12:38016200-38017400 | ZNF genes & repeats | NH-A | brain |
| 19 | chr12:38016200-38017400 | ZNF genes & repeats | Osteobl | bone |
| 20 | chr12:38016200-38017600 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 21 | chr12:38016200-38017600 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 22 | chr12:38016200-38017600 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 23 | chr12:38016200-38017600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 24 | chr12:38016200-38017600 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 25 | chr12:38016200-38017600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 26 | chr12:38016200-38017800 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 27 | chr12:38016200-38017800 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
| 28 | chr12:38016200-38023600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 29 | chr12:38016400-38017400 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
| 30 | chr12:38016400-38017400 | ZNF genes & repeats | Colonic Mucosa | Colon |
| 31 | chr12:38016400-38017400 | ZNF genes & repeats | A549 | lung |
| 32 | chr12:38016400-38017800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 33 | chr12:38016400-38018200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 34 | chr12:38016600-38017000 | Weak transcription | Psoas Muscle | Psoas |
| 35 | chr12:38016600-38017200 | Weak transcription | Ovary | ovary |
| 36 | chr12:38016600-38017200 | Weak transcription | Small Intestine | intestine |
| 37 | chr12:38016800-38017200 | Weak transcription | Brain Substantia Nigra | brain |
| 38 | chr12:38017000-38017400 | Flanking Bivalent TSS/Enh | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 39 | chr12:38017000-38017400 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 40 | chr12:38017000-38017400 | Active TSS | Psoas Muscle | Psoas |
| 41 | chr12:38017000-38017400 | ZNF genes & repeats | HSMMtube | muscle |
| 42 | chr12:38017200-38017400 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
| 43 | chr12:38017200-38017400 | ZNF genes & repeats | Primary B cells from peripheral blood | blood |
| 44 | chr12:38017200-38017400 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 45 | chr12:38017200-38017400 | ZNF genes & repeats | Primary T helper cells fromperipheralblood | blood |
| 46 | chr12:38017200-38017400 | Flanking Active TSS | Aorta | Aorta |
| 47 | chr12:38017200-38017400 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 48 | chr12:38017200-38017400 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 49 | chr12:38017200-38017400 | Active TSS | Right Atrium | heart |
| 50 | chr12:38017200-38017400 | ZNF genes & repeats | Small Intestine | intestine |
