Variant report
| Variant | rs56988021 |
|---|---|
| Chromosome Location | chr12:46637351-46637352 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:46592800-46654200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 2 | chr12:46597600-46659600 | Weak transcription | Colonic Mucosa | Colon |
| 3 | chr12:46604000-46637400 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 4 | chr12:46610600-46640000 | Weak transcription | Esophagus | oesophagus |
| 5 | chr12:46613800-46639800 | Weak transcription | Lung | lung |
| 6 | chr12:46615800-46637800 | Weak transcription | Dnd41 | blood |
| 7 | chr12:46615800-46653800 | Weak transcription | NH-A | brain |
| 8 | chr12:46616000-46640600 | Strong transcription | Fetal Thymus | thymus |
| 9 | chr12:46616000-46650400 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 10 | chr12:46616400-46637800 | Strong transcription | HUES48 Cell Line | embryonic stem cell |
| 11 | chr12:46616400-46653600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 12 | chr12:46616800-46638600 | Strong transcription | HMEC | breast |
| 13 | chr12:46616800-46639800 | Strong transcription | iPS-20b Cell Line | embryonic stem cell |
| 14 | chr12:46616800-46641600 | Strong transcription | HUES64 Cell Line | embryonic stem cell |
| 15 | chr12:46617000-46637800 | Genic enhancers | Primary T helper cells PMA-I stimulated | -- |
| 16 | chr12:46617000-46653000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 17 | chr12:46617200-46639000 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 18 | chr12:46617200-46640200 | Strong transcription | Hela-S3 | cervix |
| 19 | chr12:46618400-46639800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 20 | chr12:46618400-46639800 | Weak transcription | Spleen | Spleen |
| 21 | chr12:46618400-46641400 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 22 | chr12:46618400-46653800 | Weak transcription | HSMMtube | muscle |
| 23 | chr12:46618600-46639800 | Weak transcription | Aorta | Aorta |
| 24 | chr12:46619200-46638800 | Strong transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 25 | chr12:46619400-46639800 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
| 26 | chr12:46619600-46638200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 27 | chr12:46619600-46639800 | Weak transcription | Psoas Muscle | Psoas |
| 28 | chr12:46622200-46637800 | Weak transcription | Fetal Brain Female | brain |
| 29 | chr12:46622400-46649600 | Weak transcription | Small Intestine | intestine |
| 30 | chr12:46622400-46650800 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
| 31 | chr12:46624200-46639400 | Weak transcription | Pancreas | Pancrea |
| 32 | chr12:46627800-46639800 | Weak transcription | Right Atrium | heart |
| 33 | chr12:46627800-46640000 | Weak transcription | Gastric | stomach |
| 34 | chr12:46628000-46638200 | Weak transcription | Right Ventricle | heart |
| 35 | chr12:46628200-46640000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 36 | chr12:46629400-46650600 | Weak transcription | Rectal Smooth Muscle | rectum |
| 37 | chr12:46629600-46650400 | Weak transcription | Colon Smooth Muscle | Colon |
| 38 | chr12:46629800-46640400 | Strong transcription | NHEK | skin |
| 39 | chr12:46630000-46637800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 40 | chr12:46630600-46637800 | Weak transcription | Brain Hippocampus Middle | brain |
| 41 | chr12:46630600-46638000 | Strong transcription | Primary hematopoietic stem cells short term culture | blood |
| 42 | chr12:46631200-46637400 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 43 | chr12:46631200-46637800 | Weak transcription | Fetal Heart | heart |
| 44 | chr12:46631400-46638800 | Strong transcription | H1 Cell Line | embryonic stem cell |
| 45 | chr12:46631800-46637600 | Strong transcription | HepG2 | liver |
| 46 | chr12:46632000-46638800 | Strong transcription | K562 | blood |
| 47 | chr12:46632200-46639400 | Genic enhancers | Primary T helper naive cells fromperipheralblood | blood |
| 48 | chr12:46632800-46650800 | Weak transcription | Brain Germinal Matrix | brain |
| 49 | chr12:46633000-46639800 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 50 | chr12:46633600-46647400 | Weak transcription | Stomach Smooth Muscle | stomach |
