Variant report
| Variant | rs74086595 |
|---|---|
| Chromosome Location | chr12:48337992-48337993 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48332600-48339600 | Weak transcription | NHDF-Ad | bronchial |
| 2 | chr12:48332800-48340200 | Weak transcription | Right Atrium | heart |
| 3 | chr12:48333000-48339200 | Weak transcription | HSMM | muscle |
| 4 | chr12:48335800-48338200 | Enhancers | Spleen | Spleen |
| 5 | chr12:48335800-48346000 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 6 | chr12:48336000-48338800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 7 | chr12:48336000-48339200 | Enhancers | Sigmoid Colon | Sigmoid Colon |
| 8 | chr12:48336200-48338000 | Enhancers | Fetal Intestine Small | intestine |
| 9 | chr12:48336200-48338200 | Enhancers | Fetal Intestine Large | intestine |
| 10 | chr12:48336200-48340200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 11 | chr12:48336200-48340400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 12 | chr12:48336600-48338000 | Enhancers | Esophagus | oesophagus |
| 13 | chr12:48336600-48339200 | Enhancers | Rectal Mucosa Donor 31 | rectum |
| 14 | chr12:48336600-48340200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 15 | chr12:48336600-48341200 | Enhancers | Rectal Mucosa Donor 29 | rectum |
| 16 | chr12:48336600-48343200 | Weak transcription | Right Ventricle | heart |
| 17 | chr12:48336800-48339600 | Weak transcription | HSMMtube | muscle |
| 18 | chr12:48337200-48340400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 19 | chr12:48337400-48338000 | Enhancers | HMEC | breast |
| 20 | chr12:48337400-48338000 | Enhancers | NHEK | skin |
| 21 | chr12:48337600-48339600 | Enhancers | Hela-S3 | cervix |
| 22 | chr12:48337800-48338000 | Bivalent Enhancer | ES-WA7 Cell Line | embryonic stem cell |
| 23 | chr12:48337800-48338000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 24 | chr12:48337800-48338000 | Enhancers | A549 | lung |
| 25 | chr12:48337800-48338200 | Flanking Active TSS | Colonic Mucosa | Colon |
| 26 | chr12:48337800-48338200 | Enhancers | Small Intestine | intestine |
| 27 | chr12:48337800-48338600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 28 | chr12:48337800-48338800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 29 | chr12:48337800-48339600 | Weak transcription | Fetal Heart | heart |
| 30 | chr12:48337800-48340200 | Enhancers | Duodenum Mucosa | Duodenum |
| 31 | chr12:48337800-48343200 | Weak transcription | Pancreas | Pancrea |
