Variant report
| Variant | nsv558422 |
|---|---|
| Chromosome Location | chr12:37993759-38420380 |
| 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 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: | |
| 3 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 4 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: | |
| 5 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 6 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 7 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 8 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 9 | chr12:38032931..38033431-chr6:58776879..58777388,2 | 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 | rs113362329 | chr12:37993762-37993763 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs537209641 | chr12:37993767-37993768 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201139493 | chr12:37993769-37993770 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs202108373 | chr12:37993797-37993798 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs78594868 | chr12:37993799-37993800 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs190190605 | chr12:37993800-37993801 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs377540592 | chr12:37993814-37993815 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs142770572 | chr12:37993820-37993821 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs113349995 | chr12:37993843-37993844 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs111928501 | chr12:37993847-37993848 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs560958235 | chr12:37993854-37993855 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs182824559 | chr12:37993872-37993873 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113570166 | chr12:37993876-37993877 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs187510584 | chr12:37993878-37993879 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs541302640 | chr12:37993888-37993889 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs111531350 | chr12:37993904-37993905 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs561215618 | chr12:37993912-37993913 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs112016692 | chr12:37993925-37993926 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs530339453 | chr12:37993926-37993927 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs543566848 | chr12:37993938-37993939 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12296760 | chr12:37993955-37993956 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs191299302 | chr12:37993975-37993976 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs202152275 | chr12:37993976-37993977 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs532229672 | chr12:37993977-37993978 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs549827746 | chr12:37993992-37993993 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs552025994 | chr12:37994004-37994005 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs565654228 | chr12:37994005-37994006 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs528065797 | chr12:37994013-37994014 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs548223989 | chr12:37994014-37994015 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs140520416 | chr12:37994016-37994017 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs191973258 | chr12:37994023-37994024 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs557119166 | chr12:37994026-37994027 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs547162432 | chr12:37994028-37994029 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs200219245 | chr12:37994056-37994057 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs201035077 | chr12:37994071-37994072 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs539109962 | chr12:37994075-37994076 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs12231671 | chr12:37994076-37994077 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs61923590 | chr12:37994085-37994086 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs61923591 | chr12:37994089-37994090 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs374763045 | chr12:37994097-37994098 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs540991368 | chr12:37994109-37994110 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs554550106 | chr12:37994114-37994115 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs183216340 | chr12:37994133-37994134 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs574741642 | chr12:37994141-37994142 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs546941728 | chr12:37994161-37994162 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs116592749 | chr12:37994176-37994177 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs75950740 | chr12:37994184-37994185 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs183713223 | chr12:37994199-37994200 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs61923592 | chr12:37994203-37994204 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs200604632 | chr12:37994205-37994206 | ZNF genes & repeats Active TSS Weak transcription | 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 | chr12:37991600-37994000 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr12:37991600-37994400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr12:37991800-37998200 | Weak transcription | K562 | blood |
| 7 | chr12:37993600-37994400 | Active TSS | Psoas Muscle | Psoas |
| 8 | chr12:37995200-38003400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr12:37997200-38000200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 10 | chr12:37997400-37997800 | ZNF genes & repeats | Fetal Brain Male | brain |
| 11 | chr12:37997400-37998400 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 12 | chr12:37997800-37998800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 13 | chr12:37997800-38000200 | ZNF genes & repeats | HepG2 | liver |
| 14 | chr12:37998000-37998400 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
| 15 | chr12:37998000-37998600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 16 | chr12:37998000-38002400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 17 | chr12:37998000-38002800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 18 | chr12:37998200-37998400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 19 | chr12:37998200-37998400 | Bivalent Enhancer | H9 Derived Neuron Cultured Cells | ES cell derived |
| 20 | chr12:37998200-37998400 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 21 | chr12:37998200-37998400 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 22 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 23 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 24 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
| 25 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
| 26 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T regulatory cells fromperipheralblood | blood |
| 27 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 28 | chr12:37998200-37998400 | Enhancers | Aorta | Aorta |
| 29 | chr12:37998200-37998400 | ZNF genes & repeats | Liver | Liver |
| 30 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 31 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 32 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 33 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
| 34 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 35 | chr12:37998200-37998400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 36 | chr12:37998200-37998400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 37 | chr12:37998200-37998400 | ZNF genes & repeats | Skeletal Muscle Female | skeletal muscle |
| 38 | chr12:37998200-37998400 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 39 | chr12:37998200-37998400 | ZNF genes & repeats | Dnd41 | blood |
| 40 | chr12:37998200-37998400 | ZNF genes & repeats | HMEC | breast |
| 41 | chr12:37998200-37998400 | ZNF genes & repeats | HSMMtube | muscle |
| 42 | chr12:37998200-37998400 | ZNF genes & repeats | K562 | blood |
| 43 | chr12:37998200-37998400 | ZNF genes & repeats | NH-A | brain |
| 44 | chr12:37998200-37998400 | ZNF genes & repeats | NHLF | lung |
| 45 | chr12:37998200-37998600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 46 | chr12:37998200-38000000 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 47 | chr12:37998400-37999200 | Weak transcription | Brain Cingulate Gyrus | brain |
| 48 | chr12:37998400-37999400 | Weak transcription | Brain Substantia Nigra | brain |
| 49 | chr12:37999200-37999800 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 50 | chr12:37999400-37999600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
