Variant report
| Variant | rs74094521 |
|---|---|
| Chromosome Location | chr12:56475443-56475444 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:56472600-56475600 | Active TSS | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 2 | chr12:56472600-56476000 | Active TSS | Pancreatic Islets | Pancreatic Islet |
| 3 | chr12:56472600-56477400 | Active TSS | Brain Cingulate Gyrus | brain |
| 4 | chr12:56472800-56475800 | Flanking Bivalent TSS/Enh | Fetal Muscle Trunk | muscle |
| 5 | chr12:56472800-56476200 | Active TSS | Fetal Kidney | kidney |
| 6 | chr12:56472800-56477400 | Active TSS | Brain Substantia Nigra | brain |
| 7 | chr12:56473000-56475600 | Active TSS | Gastric | stomach |
| 8 | chr12:56473000-56475600 | Active TSS | Sigmoid Colon | Sigmoid Colon |
| 9 | chr12:56473000-56475600 | Active TSS | Small Intestine | intestine |
| 10 | chr12:56473000-56477400 | Active TSS | Brain Angular Gyrus | brain |
| 11 | chr12:56473200-56476800 | Active TSS | Rectal Smooth Muscle | rectum |
| 12 | chr12:56473800-56476400 | Enhancers | Fetal Heart | heart |
| 13 | chr12:56474000-56475800 | Flanking Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 14 | chr12:56474200-56476000 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 15 | chr12:56474200-56477200 | Active TSS | Brain Inferior Temporal Lobe | brain |
| 16 | chr12:56474400-56475600 | Active TSS | Lung | lung |
| 17 | chr12:56474400-56475800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 18 | chr12:56474400-56475800 | Bivalent/Poised TSS | Stomach Smooth Muscle | stomach |
| 19 | chr12:56474400-56476000 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 20 | chr12:56474400-56476200 | Active TSS | Duodenum Mucosa | Duodenum |
| 21 | chr12:56474400-56497200 | Weak transcription | Right Atrium | heart |
| 22 | chr12:56474600-56475600 | Flanking Active TSS | H1 Cell Line | embryonic stem cell |
| 23 | chr12:56474600-56475600 | Active TSS | Brain Anterior Caudate | brain |
| 24 | chr12:56474600-56475800 | Active TSS | Esophagus | oesophagus |
| 25 | chr12:56474600-56476000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 26 | chr12:56474600-56476000 | Flanking Active TSS | HUES6 Cell Line | embryonic stem cell |
| 27 | chr12:56474600-56476400 | Bivalent/Poised TSS | Fetal Stomach | stomach |
| 28 | chr12:56474600-56477600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 29 | chr12:56474600-56478800 | Weak transcription | Left Ventricle | heart |
| 30 | chr12:56474800-56475600 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |
| 31 | chr12:56474800-56475600 | Flanking Active TSS | HUES64 Cell Line | embryonic stem cell |
| 32 | chr12:56474800-56475800 | Active TSS | Brain Hippocampus Middle | brain |
| 33 | chr12:56474800-56476000 | Flanking Active TSS | iPS-15b Cell Line | embryonic stem cell |
| 34 | chr12:56474800-56476000 | Active TSS | Brain Dorsolateral Prefrontal Cortex | brain |
| 35 | chr12:56474800-56477600 | Flanking Active TSS | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 36 | chr12:56474800-56477800 | Transcr. at gene 5' and 3' | Fetal Intestine Small | intestine |
| 37 | chr12:56474800-56479800 | Weak transcription | HMEC | breast |
| 38 | chr12:56475000-56475800 | Flanking Active TSS | iPS-18 Cell Line | embryonic stem cell |
| 39 | chr12:56475000-56476400 | Enhancers | Placenta Amnion | Placenta Amnion |
| 40 | chr12:56475000-56477200 | Enhancers | K562 | blood |
| 41 | chr12:56475000-56485600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 42 | chr12:56475200-56475600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 43 | chr12:56475200-56475600 | Bivalent/Poised TSS | Fetal Muscle Leg | muscle |
| 44 | chr12:56475200-56475600 | Flanking Active TSS | A549 | lung |
| 45 | chr12:56475200-56475800 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 46 | chr12:56475200-56475800 | Weak transcription | Spleen | Spleen |
| 47 | chr12:56475200-56476000 | Bivalent Enhancer | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 48 | chr12:56475200-56476000 | Active TSS | Stomach Mucosa | stomach |
| 49 | chr12:56475200-56476000 | Active TSS | HepG2 | liver |
| 50 | chr12:56475200-56476000 | Enhancers | NHEK | skin |
