Variant report
| Variant | rs299486 |
|---|---|
| Chromosome Location | chr12:29713784-29713785 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29665400-29725400 | Weak transcription | Brain Cingulate Gyrus | brain |
| 2 | chr12:29668800-29716600 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 3 | chr12:29699400-29715800 | Weak transcription | Right Ventricle | heart |
| 4 | chr12:29700400-29719000 | Weak transcription | Fetal Muscle Trunk | muscle |
| 5 | chr12:29700400-29734000 | Weak transcription | Brain Anterior Caudate | brain |
| 6 | chr12:29701000-29714200 | Weak transcription | HSMMtube | muscle |
| 7 | chr12:29701200-29714400 | Weak transcription | NHDF-Ad | bronchial |
| 8 | chr12:29701200-29714400 | Weak transcription | NHLF | lung |
| 9 | chr12:29701200-29715200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 10 | chr12:29701200-29715600 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 11 | chr12:29703800-29715200 | Weak transcription | Fetal Muscle Leg | muscle |
| 12 | chr12:29705000-29716000 | Weak transcription | Spleen | Spleen |
| 13 | chr12:29706000-29715200 | Weak transcription | Colon Smooth Muscle | Colon |
| 14 | chr12:29706200-29715000 | Weak transcription | Osteobl | bone |
| 15 | chr12:29706600-29716200 | Weak transcription | Aorta | Aorta |
| 16 | chr12:29707400-29714600 | Weak transcription | Fetal Heart | heart |
| 17 | chr12:29709800-29756200 | Weak transcription | HMEC | breast |
| 18 | chr12:29710000-29713800 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 19 | chr12:29710000-29714200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 20 | chr12:29710000-29714200 | Weak transcription | HSMM | muscle |
| 21 | chr12:29710000-29715000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 22 | chr12:29710000-29715600 | Weak transcription | Stomach Smooth Muscle | stomach |
| 23 | chr12:29710200-29717800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 24 | chr12:29711400-29716600 | Enhancers | Stomach Mucosa | stomach |
| 25 | chr12:29711400-29718200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 26 | chr12:29711800-29716600 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 27 | chr12:29711800-29720800 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
| 28 | chr12:29712000-29715200 | Weak transcription | Left Ventricle | heart |
| 29 | chr12:29712000-29715600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
| 30 | chr12:29712400-29714000 | Weak transcription | Small Intestine | intestine |
| 31 | chr12:29712600-29714200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 32 | chr12:29712600-29714200 | Weak transcription | HUVEC | blood vessel |
| 33 | chr12:29712600-29715200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 34 | chr12:29712600-29715200 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
| 35 | chr12:29712600-29715200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 36 | chr12:29712600-29715600 | Weak transcription | Right Atrium | heart |
| 37 | chr12:29712600-29722200 | Weak transcription | Colonic Mucosa | Colon |
| 38 | chr12:29712600-29734600 | Weak transcription | Liver | Liver |
| 39 | chr12:29712800-29714200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 40 | chr12:29712800-29714200 | Weak transcription | Fetal Kidney | kidney |
| 41 | chr12:29712800-29714400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 42 | chr12:29712800-29714400 | Weak transcription | Adipose Nuclei | Adipose |
| 43 | chr12:29712800-29714400 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 44 | chr12:29712800-29715000 | Weak transcription | Duodenum Mucosa | Duodenum |
| 45 | chr12:29712800-29715000 | Weak transcription | Ovary | ovary |
| 46 | chr12:29712800-29722200 | Weak transcription | Brain Germinal Matrix | brain |
| 47 | chr12:29713000-29715000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 48 | chr12:29713200-29715000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 49 | chr12:29713200-29715000 | Enhancers | Hela-S3 | cervix |
| 50 | chr12:29713200-29719800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
