Variant report
| Variant | rs531141199 |
|---|---|
| Chromosome Location | chr12:49413587-49413588 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:49411400-49413600 | Active TSS | Brain Dorsolateral Prefrontal Cortex | brain |
| 2 | chr12:49412000-49413600 | Active TSS | Duodenum Mucosa | Duodenum |
| 3 | chr12:49412200-49413600 | Active TSS | Brain Inferior Temporal Lobe | brain |
| 4 | chr12:49412200-49414000 | Active TSS | Rectal Mucosa Donor 31 | rectum |
| 5 | chr12:49412600-49414000 | Transcr. at gene 5' and 3' | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 6 | chr12:49412600-49415000 | Weak transcription | Gastric | stomach |
| 7 | chr12:49412800-49413600 | Flanking Active TSS | Primary T cells from cord blood | blood |
| 8 | chr12:49412800-49413600 | Flanking Active TSS | Primary hematopoietic stem cells | blood |
| 9 | chr12:49412800-49413600 | Flanking Active TSS | Primary T helper cells fromperipheralblood | blood |
| 10 | chr12:49412800-49413600 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
| 11 | chr12:49412800-49413600 | Flanking Active TSS | NH-A | brain |
| 12 | chr12:49412800-49413800 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 13 | chr12:49412800-49414000 | Flanking Active TSS | Primary neutrophils fromperipheralblood | blood |
| 14 | chr12:49412800-49414000 | Flanking Active TSS | Primary hematopoietic stem cells short term culture | blood |
| 15 | chr12:49412800-49414000 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 16 | chr12:49413000-49413600 | Flanking Active TSS | Primary T killer naive cells fromperipheralblood | blood |
| 17 | chr12:49413000-49413600 | Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 18 | chr12:49413000-49413800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 19 | chr12:49413000-49413800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 20 | chr12:49413000-49414000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 21 | chr12:49413000-49414000 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
| 22 | chr12:49413000-49414000 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
| 23 | chr12:49413000-49414000 | Enhancers | Placenta | Placenta |
| 24 | chr12:49413000-49414600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 25 | chr12:49413000-49414600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 26 | chr12:49413000-49414600 | Weak transcription | Lung | lung |
| 27 | chr12:49413000-49414600 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 28 | chr12:49413000-49415000 | Weak transcription | Esophagus | oesophagus |
| 29 | chr12:49413000-49415000 | Weak transcription | Pancreas | Pancrea |
| 30 | chr12:49413000-49415200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 31 | chr12:49413000-49415200 | Weak transcription | Aorta | Aorta |
| 32 | chr12:49413000-49415200 | Weak transcription | Brain Substantia Nigra | brain |
| 33 | chr12:49413000-49415200 | Weak transcription | Rectal Smooth Muscle | rectum |
| 34 | chr12:49413000-49415600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 35 | chr12:49413000-49416000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 36 | chr12:49413000-49453400 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 37 | chr12:49413200-49413600 | Flanking Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 38 | chr12:49413200-49413600 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 39 | chr12:49413200-49413600 | Flanking Active TSS | iPS-15b Cell Line | embryonic stem cell |
| 40 | chr12:49413200-49413600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 41 | chr12:49413200-49413600 | Flanking Active TSS | Primary T helper cells PMA-I stimulated | -- |
| 42 | chr12:49413200-49413600 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 43 | chr12:49413200-49413600 | Flanking Active TSS | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 44 | chr12:49413200-49413600 | Enhancers | Brain Cingulate Gyrus | brain |
| 45 | chr12:49413200-49413600 | Enhancers | Fetal Lung | lung |
| 46 | chr12:49413200-49413600 | Enhancers | Fetal Stomach | stomach |
| 47 | chr12:49413200-49413600 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 48 | chr12:49413200-49413600 | Flanking Active TSS | HSMMtube | muscle |
| 49 | chr12:49413200-49413600 | Enhancers | HUVEC | blood vessel |
| 50 | chr12:49413200-49413600 | Enhancers | NHDF-Ad | bronchial |
