Variant report
| Variant | nsv558436 |
|---|---|
| Chromosome Location | chr12:37998071-38420405 |
| 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 | chr12:38032912..38033432-chr6:58774035..58775015,2 | MCF-7 | breast: | |
| 2 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 3 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: | |
| 4 | chr12:38032931..38033431-chr6:58776879..58777388,2 | MCF-7 | breast: | |
| 5 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 6 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 7 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 8 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 9 | chr11:48862246..48863766-chr12:38036979..38038502,2 | 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 | rs11559922 | chr12:37998071-37998072 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs561771592 | chr12:37998082-37998083 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs530708662 | chr12:37998083-37998084 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544531931 | chr12:37998085-37998086 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557802608 | chr12:37998086-37998087 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576644440 | chr12:37998090-37998091 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs564102046 | chr12:37998098-37998099 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs188551506 | chr12:37998108-37998109 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs201891845 | chr12:37998119-37998120 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs532931642 | chr12:37998123-37998124 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs546402643 | chr12:37998131-37998132 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200220686 | chr12:37998139-37998140 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs565793206 | chr12:37998141-37998142 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs532585449 | chr12:37998156-37998157 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs201079621 | chr12:37998159-37998160 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs147707088 | chr12:37998160-37998161 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs11519978 | chr12:37998170-37998171 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs537329084 | chr12:37998181-37998182 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs79828399 | chr12:37998195-37998196 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs8189494 | chr12:37998196-37998197 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs11513964 | chr12:37998214-37998215 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs553608306 | chr12:37998215-37998216 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs368941837 | chr12:37998216-37998217 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs541951585 | chr12:37998217-37998218 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs566390652 | chr12:37998233-37998234 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs80129741 | chr12:37998234-37998235 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs140513812 | chr12:37998246-37998247 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs2199981 | chr12:37998247-37998248 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs78650863 | chr12:37998271-37998272 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs577523395 | chr12:37998272-37998273 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs376492678 | chr12:37998279-37998280 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs75009029 | chr12:37998283-37998284 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs564133883 | chr12:37998309-37998310 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs201443659 | chr12:37998319-37998320 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs61921079 | chr12:37998320-37998321 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs147754747 | chr12:37998329-37998330 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs528567121 | chr12:37998331-37998332 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs143732135 | chr12:37998333-37998334 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs369339918 | chr12:37998336-37998337 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs190092890 | chr12:37998337-37998338 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs140005963 | chr12:37998339-37998340 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs548696584 | chr12:37998341-37998342 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs199706565 | chr12:37998345-37998346 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs145536885 | chr12:37998347-37998348 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs562064066 | chr12:37998353-37998354 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs144937314 | chr12:37998354-37998355 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs145039432 | chr12:37998357-37998358 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs200864673 | chr12:37998363-37998364 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs530901636 | chr12:37998377-37998378 | ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs550709639 | chr12:37998378-37998379 | ZNF genes & repeats Bivalent Enhancer Enhancers | 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 | chr12:37990400-38014000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 4 | chr12:37991800-37998200 | Weak transcription | K562 | blood |
| 5 | chr12:37995200-38003400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 6 | chr12:37997200-38000200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr12:37997400-37998400 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 8 | chr12:37997800-37998800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 9 | chr12:37997800-38000200 | ZNF genes & repeats | HepG2 | liver |
| 10 | chr12:37998000-37998400 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
| 11 | chr12:37998000-37998600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 12 | chr12:37998000-38002400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 13 | chr12:37998000-38002800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 14 | chr12:37998200-37998400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 15 | chr12:37998200-37998400 | Bivalent Enhancer | H9 Derived Neuron Cultured Cells | ES cell derived |
| 16 | chr12:37998200-37998400 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 17 | chr12:37998200-37998400 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 18 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 19 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 20 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
| 21 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
| 22 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T regulatory cells fromperipheralblood | blood |
| 23 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 24 | chr12:37998200-37998400 | Enhancers | Aorta | Aorta |
| 25 | chr12:37998200-37998400 | ZNF genes & repeats | Liver | Liver |
| 26 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 27 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 28 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 29 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
| 30 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 31 | chr12:37998200-37998400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 32 | chr12:37998200-37998400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 33 | chr12:37998200-37998400 | ZNF genes & repeats | Skeletal Muscle Female | skeletal muscle |
| 34 | chr12:37998200-37998400 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 35 | chr12:37998200-37998400 | ZNF genes & repeats | Dnd41 | blood |
| 36 | chr12:37998200-37998400 | ZNF genes & repeats | HMEC | breast |
| 37 | chr12:37998200-37998400 | ZNF genes & repeats | HSMMtube | muscle |
| 38 | chr12:37998200-37998400 | ZNF genes & repeats | K562 | blood |
| 39 | chr12:37998200-37998400 | ZNF genes & repeats | NH-A | brain |
| 40 | chr12:37998200-37998400 | ZNF genes & repeats | NHLF | lung |
| 41 | chr12:37998200-37998600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 42 | chr12:37998200-38000000 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 43 | chr12:37998400-37999200 | Weak transcription | Brain Cingulate Gyrus | brain |
| 44 | chr12:37998400-37999400 | Weak transcription | Brain Substantia Nigra | brain |
| 45 | chr12:37999200-37999800 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 46 | chr12:37999400-37999600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 47 | chr12:37999400-37999800 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 48 | chr12:37999400-38000000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 49 | chr12:37999400-38000000 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 50 | chr12:37999400-38001000 | ZNF genes & repeats | HUVEC | blood vessel |
