Variant report
| Variant | rs190045543 |
|---|---|
| Chromosome Location | chr12:48335653-48335654 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48328400-48337800 | Enhancers | Fetal Heart | heart |
| 2 | chr12:48332600-48339600 | Weak transcription | NHDF-Ad | bronchial |
| 3 | chr12:48332800-48337400 | Weak transcription | HMEC | breast |
| 4 | chr12:48332800-48337400 | Weak transcription | NHEK | skin |
| 5 | chr12:48332800-48340200 | Weak transcription | Right Atrium | heart |
| 6 | chr12:48333000-48335800 | Weak transcription | Right Ventricle | heart |
| 7 | chr12:48333000-48339200 | Weak transcription | HSMM | muscle |
| 8 | chr12:48333400-48335800 | Weak transcription | Spleen | Spleen |
| 9 | chr12:48333600-48336200 | Weak transcription | Small Intestine | intestine |
| 10 | chr12:48333800-48337000 | Weak transcription | Hela-S3 | cervix |
| 11 | chr12:48334000-48336800 | Bivalent Enhancer | Primary Natural Killer cells fromperipheralblood | blood |
| 12 | chr12:48334200-48336600 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 13 | chr12:48334400-48336400 | Weak transcription | Colonic Mucosa | Colon |
| 14 | chr12:48334600-48335800 | Bivalent Enhancer | iPS DF 19.11 Cell Line | embryonic stem cell |
| 15 | chr12:48335000-48335800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 16 | chr12:48335000-48336400 | Enhancers | Duodenum Mucosa | Duodenum |
| 17 | chr12:48335000-48337000 | Bivalent Enhancer | Fetal Stomach | stomach |
| 18 | chr12:48335200-48335800 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
| 19 | chr12:48335200-48335800 | Bivalent Enhancer | ES-UCSF4 Cell Line | embryonic stem cell |
| 20 | chr12:48335200-48335800 | Enhancers | Fetal Muscle Leg | muscle |
| 21 | chr12:48335200-48336000 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
| 22 | chr12:48335200-48336000 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
| 23 | chr12:48335200-48336200 | Enhancers | HSMMtube | muscle |
| 24 | chr12:48335200-48336600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 25 | chr12:48335200-48337000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 26 | chr12:48335200-48337000 | Bivalent Enhancer | Fetal Adrenal Gland | Adrenal Gland |
| 27 | chr12:48335200-48337600 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
| 28 | chr12:48335400-48336200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 29 | chr12:48335400-48336200 | Bivalent Enhancer | Fetal Thymus | thymus |
| 30 | chr12:48335600-48335800 | Bivalent Enhancer | ES-WA7 Cell Line | embryonic stem cell |
| 31 | chr12:48335600-48335800 | Bivalent Enhancer | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 32 | chr12:48335600-48336200 | Bivalent Enhancer | HUES48 Cell Line | embryonic stem cell |
| 33 | chr12:48335600-48337000 | Enhancers | Placenta | Placenta |
