Variant report
| Variant | rs2288230 |
|---|---|
| Chromosome Location | chr12:29736523-29736524 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29709800-29756200 | Weak transcription | HMEC | breast |
| 2 | chr12:29713200-29742600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr12:29716200-29764800 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 4 | chr12:29720200-29743600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr12:29726000-29751400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 6 | chr12:29729400-29744000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 7 | chr12:29731000-29742600 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 8 | chr12:29731800-29769600 | Weak transcription | Hela-S3 | cervix |
| 9 | chr12:29732000-29737200 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
| 10 | chr12:29732200-29737200 | Enhancers | Colon Smooth Muscle | Colon |
| 11 | chr12:29733600-29737000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 12 | chr12:29733800-29737200 | Enhancers | Adipose Nuclei | Adipose |
| 13 | chr12:29734000-29736600 | Enhancers | Brain Anterior Caudate | brain |
| 14 | chr12:29734200-29737200 | Enhancers | Rectal Smooth Muscle | rectum |
| 15 | chr12:29734600-29737000 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 16 | chr12:29734600-29737000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 17 | chr12:29734600-29737200 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 18 | chr12:29734800-29736800 | Enhancers | NHLF | lung |
| 19 | chr12:29734800-29737200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 20 | chr12:29735200-29736600 | Enhancers | Brain Cingulate Gyrus | brain |
| 21 | chr12:29735200-29737000 | Enhancers | Spleen | Spleen |
| 22 | chr12:29735200-29737200 | Enhancers | Left Ventricle | heart |
| 23 | chr12:29735400-29737000 | Enhancers | Fetal Heart | heart |
| 24 | chr12:29735400-29737200 | Enhancers | Skeletal Muscle Male | skeletal muscle |
| 25 | chr12:29735400-29745800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 26 | chr12:29735600-29736600 | Flanking Active TSS | Stomach Smooth Muscle | stomach |
| 27 | chr12:29735600-29737200 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 28 | chr12:29735800-29741000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 29 | chr12:29735800-29742400 | Weak transcription | NHDF-Ad | bronchial |
| 30 | chr12:29736000-29736600 | Weak transcription | Fetal Muscle Leg | muscle |
| 31 | chr12:29736000-29737000 | Weak transcription | Small Intestine | intestine |
| 32 | chr12:29736000-29742400 | Weak transcription | HSMMtube | muscle |
| 33 | chr12:29736000-29743400 | Weak transcription | Fetal Muscle Trunk | muscle |
| 34 | chr12:29736000-29744200 | Weak transcription | Brain Hippocampus Middle | brain |
| 35 | chr12:29736000-29744200 | Weak transcription | Right Atrium | heart |
| 36 | chr12:29736000-29752200 | Weak transcription | HSMM | muscle |
| 37 | chr12:29736200-29736600 | Weak transcription | Ovary | ovary |
| 38 | chr12:29736200-29736800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 39 | chr12:29736200-29737000 | Enhancers | Liver | Liver |
| 40 | chr12:29736200-29737200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 41 | chr12:29736200-29737200 | Enhancers | Duodenum Smooth Muscle | Duodenum |
| 42 | chr12:29736200-29737200 | Enhancers | Right Ventricle | heart |
| 43 | chr12:29736400-29736800 | Enhancers | Fetal Stomach | stomach |
| 44 | chr12:29736400-29737000 | Enhancers | Lung | lung |
| 45 | chr12:29736400-29737200 | Enhancers | Psoas Muscle | Psoas |
| 46 | chr12:29736400-29740200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
