Variant report
| Variant | rs112675254 |
|---|---|
| Chromosome Location | chr12:56478697-56478698 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:56474400-56497200 | Weak transcription | Right Atrium | heart |
| 2 | chr12:56474600-56478800 | Weak transcription | Left Ventricle | heart |
| 3 | chr12:56474800-56479800 | Weak transcription | HMEC | breast |
| 4 | chr12:56475000-56485600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 5 | chr12:56475200-56478800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 6 | chr12:56475800-56479200 | Genic enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr12:56475800-56482400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 8 | chr12:56476000-56480000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 9 | chr12:56476000-56481000 | Weak transcription | Spleen | Spleen |
| 10 | chr12:56476000-56481800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 11 | chr12:56476200-56497200 | Weak transcription | Fetal Kidney | kidney |
| 12 | chr12:56476400-56480000 | Weak transcription | Fetal Heart | heart |
| 13 | chr12:56476400-56480200 | Weak transcription | Hela-S3 | cervix |
| 14 | chr12:56476400-56483200 | Strong transcription | H9 Cell Line | embryonic stem cell |
| 15 | chr12:56476600-56478800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 16 | chr12:56476600-56479200 | Genic enhancers | Fetal Muscle Leg | muscle |
| 17 | chr12:56476600-56480400 | Weak transcription | A549 | lung |
| 18 | chr12:56476600-56487400 | Weak transcription | Lung | lung |
| 19 | chr12:56476600-56496400 | Strong transcription | iPS-20b Cell Line | embryonic stem cell |
| 20 | chr12:56476600-56497600 | Weak transcription | Small Intestine | intestine |
| 21 | chr12:56476800-56479000 | Weak transcription | Fetal Muscle Trunk | muscle |
| 22 | chr12:56476800-56479800 | Weak transcription | HSMMtube | muscle |
| 23 | chr12:56476800-56487200 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
| 24 | chr12:56477000-56479800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 25 | chr12:56477000-56497000 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 26 | chr12:56477000-56497000 | Strong transcription | HUES48 Cell Line | embryonic stem cell |
| 27 | chr12:56477200-56478800 | Weak transcription | K562 | blood |
| 28 | chr12:56477200-56481600 | Genic enhancers | Rectal Mucosa Donor 31 | rectum |
| 29 | chr12:56477400-56479200 | Genic enhancers | Pancreas | Pancrea |
| 30 | chr12:56477600-56480000 | Strong transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 31 | chr12:56477600-56496600 | Strong transcription | HUES64 Cell Line | embryonic stem cell |
| 32 | chr12:56477800-56478800 | Enhancers | Brain Substantia Nigra | brain |
| 33 | chr12:56477800-56478800 | Weak transcription | Esophagus | oesophagus |
| 34 | chr12:56477800-56478800 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 35 | chr12:56477800-56478800 | Weak transcription | Rectal Smooth Muscle | rectum |
| 36 | chr12:56477800-56478800 | Weak transcription | NHEK | skin |
| 37 | chr12:56477800-56479200 | Genic enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 38 | chr12:56477800-56479200 | Genic enhancers | Gastric | stomach |
| 39 | chr12:56477800-56479400 | Genic enhancers | Fetal Intestine Large | intestine |
| 40 | chr12:56477800-56479400 | Genic enhancers | Fetal Intestine Small | intestine |
| 41 | chr12:56477800-56481400 | Genic enhancers | Duodenum Mucosa | Duodenum |
| 42 | chr12:56477800-56481600 | Genic enhancers | Liver | Liver |
| 43 | chr12:56477800-56481600 | Genic enhancers | Rectal Mucosa Donor 29 | rectum |
| 44 | chr12:56477800-56485800 | Strong transcription | Fetal Stomach | stomach |
| 45 | chr12:56477800-56496200 | Strong transcription | H1 Cell Line | embryonic stem cell |
| 46 | chr12:56478000-56478800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 47 | chr12:56478000-56478800 | Weak transcription | Colonic Mucosa | Colon |
| 48 | chr12:56478000-56478800 | Weak transcription | Stomach Mucosa | stomach |
| 49 | chr12:56478000-56479200 | Genic enhancers | Brain Angular Gyrus | brain |
| 50 | chr12:56478000-56479200 | Enhancers | Brain Anterior Caudate | brain |
