Variant report
| Variant | rs12713290 |
|---|---|
| Chromosome Location | chr2:55416953-55416954 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:55393000-55422000 | Weak transcription | Fetal Muscle Trunk | muscle |
| 2 | chr2:55394000-55419000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr2:55395600-55422800 | Weak transcription | Ovary | ovary |
| 4 | chr2:55395600-55427000 | Weak transcription | Left Ventricle | heart |
| 5 | chr2:55395800-55418200 | Weak transcription | Primary hematopoietic stem cells | blood |
| 6 | chr2:55395800-55418400 | Weak transcription | Fetal Intestine Large | intestine |
| 7 | chr2:55395800-55427000 | Weak transcription | Aorta | Aorta |
| 8 | chr2:55397200-55450000 | Weak transcription | NH-A | brain |
| 9 | chr2:55397400-55422400 | Weak transcription | HSMMtube | muscle |
| 10 | chr2:55397400-55423000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 11 | chr2:55399600-55419000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 12 | chr2:55399600-55423000 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 13 | chr2:55401600-55419000 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 14 | chr2:55402600-55422000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 15 | chr2:55402600-55423200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 16 | chr2:55402800-55450000 | Weak transcription | NHDF-Ad | bronchial |
| 17 | chr2:55403200-55423800 | Weak transcription | Osteobl | bone |
| 18 | chr2:55403200-55426800 | Weak transcription | Colon Smooth Muscle | Colon |
| 19 | chr2:55403200-55431800 | Weak transcription | Fetal Brain Male | brain |
| 20 | chr2:55403400-55418800 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
| 21 | chr2:55403400-55423000 | Weak transcription | NHEK | skin |
| 22 | chr2:55403600-55420600 | Weak transcription | HSMM | muscle |
| 23 | chr2:55404200-55423000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 24 | chr2:55405400-55423000 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 25 | chr2:55406800-55423000 | Weak transcription | Lung | lung |
| 26 | chr2:55408600-55423000 | Weak transcription | Pancreas | Pancrea |
| 27 | chr2:55408800-55423600 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 28 | chr2:55409000-55423000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 29 | chr2:55409200-55425800 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
| 30 | chr2:55409400-55418400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 31 | chr2:55409600-55418400 | Weak transcription | Fetal Stomach | stomach |
| 32 | chr2:55409800-55418200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 33 | chr2:55410000-55424000 | Weak transcription | Fetal Thymus | thymus |
| 34 | chr2:55410600-55422800 | Weak transcription | HepG2 | liver |
| 35 | chr2:55411200-55418400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 36 | chr2:55411200-55427000 | Weak transcription | Primary B cells from cord blood | blood |
| 37 | chr2:55411800-55417800 | Weak transcription | Fetal Intestine Small | intestine |
| 38 | chr2:55412200-55423000 | Weak transcription | Dnd41 | blood |
| 39 | chr2:55412600-55423000 | Weak transcription | Thymus | Thymus |
| 40 | chr2:55412800-55417400 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 41 | chr2:55412800-55422000 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 42 | chr2:55412800-55428200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 43 | chr2:55413000-55427000 | Weak transcription | Brain Angular Gyrus | brain |
| 44 | chr2:55413600-55427000 | Weak transcription | Fetal Lung | lung |
| 45 | chr2:55414600-55427000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 46 | chr2:55414800-55423200 | Weak transcription | Spleen | Spleen |
| 47 | chr2:55415400-55450000 | Weak transcription | GM12878-XiMat | blood |
| 48 | chr2:55415600-55418000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 49 | chr2:55415600-55423000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 50 | chr2:55416000-55426800 | Weak transcription | Fetal Kidney | kidney |
