Variant report
| Variant | rs549162495 |
|---|---|
| Chromosome Location | chr12:50018279-50018280 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:50016800-50018400 | Active TSS | HSMM | muscle |
| 2 | chr12:50017000-50030600 | Weak transcription | Fetal Heart | heart |
| 3 | chr12:50017200-50019600 | Weak transcription | Primary T cells from cord blood | blood |
| 4 | chr12:50017200-50025600 | Weak transcription | Fetal Lung | lung |
| 5 | chr12:50017400-50018400 | Enhancers | Fetal Brain Male | brain |
| 6 | chr12:50017400-50019400 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
| 7 | chr12:50017400-50019600 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
| 8 | chr12:50017400-50026600 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 9 | chr12:50017400-50027200 | Weak transcription | Gastric | stomach |
| 10 | chr12:50017400-50027400 | Weak transcription | Lung | lung |
| 11 | chr12:50017600-50018400 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 12 | chr12:50017600-50018400 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 13 | chr12:50017600-50018400 | Flanking Active TSS | HMEC | breast |
| 14 | chr12:50017600-50018400 | Flanking Active TSS | NHEK | skin |
| 15 | chr12:50017600-50035600 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 16 | chr12:50017800-50018400 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 17 | chr12:50017800-50018400 | Flanking Active TSS | Spleen | Spleen |
| 18 | chr12:50017800-50019000 | Enhancers | Fetal Thymus | thymus |
| 19 | chr12:50017800-50019200 | Enhancers | Hela-S3 | cervix |
| 20 | chr12:50017800-50030600 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
| 21 | chr12:50017800-50036400 | Weak transcription | Colonic Mucosa | Colon |
| 22 | chr12:50017800-50042200 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 23 | chr12:50018000-50018400 | Enhancers | Primary T cells fromperipheralblood | blood |
| 24 | chr12:50018000-50018400 | Enhancers | Brain Anterior Caudate | brain |
| 25 | chr12:50018000-50018400 | Enhancers | Fetal Muscle Trunk | muscle |
| 26 | chr12:50018000-50018400 | Enhancers | Fetal Muscle Leg | muscle |
| 27 | chr12:50018000-50018400 | Enhancers | Fetal Stomach | stomach |
| 28 | chr12:50018000-50018600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 29 | chr12:50018000-50018600 | Weak transcription | Pancreas | Pancrea |
| 30 | chr12:50018000-50018800 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 31 | chr12:50018000-50018800 | Weak transcription | HUVEC | blood vessel |
| 32 | chr12:50018000-50018800 | Weak transcription | K562 | blood |
| 33 | chr12:50018000-50019000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 34 | chr12:50018000-50019000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 35 | chr12:50018000-50019000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 36 | chr12:50018000-50019400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 37 | chr12:50018000-50019400 | Weak transcription | Osteobl | bone |
| 38 | chr12:50018000-50019600 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
| 39 | chr12:50018000-50019800 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 40 | chr12:50018000-50019800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 41 | chr12:50018000-50019800 | Enhancers | Colon Smooth Muscle | Colon |
| 42 | chr12:50018000-50021400 | Weak transcription | NHDF-Ad | bronchial |
| 43 | chr12:50018000-50022000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 44 | chr12:50018000-50024400 | Weak transcription | Fetal Brain Female | brain |
| 45 | chr12:50018000-50024800 | Weak transcription | Brain Germinal Matrix | brain |
| 46 | chr12:50018000-50025000 | Weak transcription | Right Ventricle | heart |
| 47 | chr12:50018000-50025200 | Weak transcription | Brain Hippocampus Middle | brain |
| 48 | chr12:50018000-50025200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 49 | chr12:50018000-50025200 | Weak transcription | Fetal Intestine Large | intestine |
| 50 | chr12:50018000-50025400 | Weak transcription | Brain Substantia Nigra | brain |
