Variant report
| Variant | nsv1049294 |
|---|---|
| Chromosome Location | chr12:38072081-38437819 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs531678479 | chr12:38072082-38072083 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs374339047 | chr12:38072083-38072084 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs529930090 | chr12:38072105-38072106 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189565974 | chr12:38072116-38072117 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs75198419 | chr12:38072127-38072128 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs144482493 | chr12:38072136-38072137 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543793320 | chr12:38072137-38072138 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201948172 | chr12:38072149-38072150 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs112756934 | chr12:38072162-38072163 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs547781404 | chr12:38072165-38072166 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200424576 | chr12:38072166-38072167 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs201486536 | chr12:38072168-38072169 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113198099 | chr12:38072169-38072170 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs202245594 | chr12:38072170-38072171 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs373535367 | chr12:38072200-38072201 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs567826494 | chr12:38072206-38072207 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs536964911 | chr12:38072220-38072221 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs200229059 | chr12:38072222-38072223 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs138291730 | chr12:38072271-38072272 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs115023906 | chr12:38072272-38072273 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12303125 | chr12:38072282-38072283 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs143861974 | chr12:38072284-38072285 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs147214565 | chr12:38072292-38072293 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs534282449 | chr12:38072296-38072297 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs140574009 | chr12:38072314-38072315 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs149746599 | chr12:38072347-38072348 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs543348169 | chr12:38072363-38072364 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs182924319 | chr12:38072368-38072369 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs561556672 | chr12:38072388-38072389 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs201241753 | chr12:38072405-38072406 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs199596355 | chr12:38072406-38072407 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs576675259 | chr12:38072407-38072408 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs113551541 | chr12:38072416-38072417 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs144526777 | chr12:38072458-38072459 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs531787013 | chr12:38072472-38072473 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs550177485 | chr12:38072478-38072479 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs527804570 | chr12:38072509-38072510 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs541035989 | chr12:38072527-38072528 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs148466387 | chr12:38072554-38072555 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs188425593 | chr12:38072566-38072567 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs530400077 | chr12:38072578-38072579 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs550533653 | chr12:38072590-38072591 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs570258238 | chr12:38072597-38072598 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs11172889 | chr12:38072614-38072615 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 45 | rs552747075 | chr12:38072621-38072622 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs11172892 | chr12:38072656-38072657 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 47 | rs551308625 | chr12:38072657-38072658 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs199550555 | chr12:38072663-38072664 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs187878562 | chr12:38072673-38072674 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs74347807 | chr12:38072679-38072680 | ZNF genes & repeats | 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 | chr12:38061000-38075600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr12:38063800-38076600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 3 | chr12:38065800-38076400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 4 | chr12:38069800-38072200 | Weak transcription | K562 | blood |
| 5 | chr12:38070000-38072600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 6 | chr12:38071400-38075800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 7 | chr12:38074400-38074800 | Active TSS | Fetal Heart | heart |
| 8 | chr12:38075400-38075800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 9 | chr12:38081400-38088800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr12:38081600-38097000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 11 | chr12:38082600-38099400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 12 | chr12:38084000-38084800 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 13 | chr12:38084800-38087400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 14 | chr12:38086200-38086400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 15 | chr12:38087000-38099000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 16 | chr12:38087400-38087600 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 17 | chr12:38087400-38087600 | ZNF genes & repeats | HUVEC | blood vessel |
| 18 | chr12:38088600-38088800 | ZNF genes & repeats | HUVEC | blood vessel |
| 19 | chr12:38090400-38091000 | Active TSS | Aorta | Aorta |
| 20 | chr12:38090800-38093200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 21 | chr12:38091000-38096800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 22 | chr12:38094000-38094200 | ZNF genes & repeats | HepG2 | liver |
| 23 | chr12:38095600-38099600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 24 | chr12:38096000-38097000 | Active TSS | Aorta | Aorta |
| 25 | chr12:38096200-38096800 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 26 | chr12:38097000-38098800 | Weak transcription | Aorta | Aorta |
| 27 | chr12:38098600-38099200 | ZNF genes & repeats | Liver | Liver |
| 28 | chr12:38100400-38102200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 29 | chr12:38100400-38105600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 30 | chr12:38100600-38102200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 31 | chr12:38101200-38106000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 32 | chr12:38101200-38111400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 33 | chr12:38101800-38102400 | Active TSS | Aorta | Aorta |
| 34 | chr12:38102200-38103200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 35 | chr12:38103200-38106400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 36 | chr12:38103200-38111200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 37 | chr12:38105200-38105400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 38 | chr12:38107200-38126800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 39 | chr12:38107800-38111600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 40 | chr12:38108200-38108600 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 41 | chr12:38108200-38108600 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 42 | chr12:38108200-38108600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 43 | chr12:38108200-38108600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
| 44 | chr12:38108200-38108600 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 45 | chr12:38108400-38108600 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 46 | chr12:38108400-38108600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 47 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 48 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 49 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
| 50 | chr12:38108400-38108600 | ZNF genes & repeats | Fetal Brain Male | brain |
