Variant report
| Variant | rs130276 |
|---|---|
| Chromosome Location | chr22:33206511-33206512 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:33200400-33216200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr22:33200600-33215200 | Weak transcription | NHEK | skin |
| 3 | chr22:33201000-33207200 | Enhancers | Fetal Intestine Large | intestine |
| 4 | chr22:33201000-33210400 | Weak transcription | HSMMtube | muscle |
| 5 | chr22:33201000-33214400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 6 | chr22:33201000-33227400 | Weak transcription | Aorta | Aorta |
| 7 | chr22:33201200-33211800 | Weak transcription | Gastric | stomach |
| 8 | chr22:33201200-33222800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 9 | chr22:33201400-33208800 | Genic enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 10 | chr22:33201600-33208000 | Genic enhancers | Fetal Stomach | stomach |
| 11 | chr22:33201600-33226200 | Weak transcription | NH-A | brain |
| 12 | chr22:33201800-33206600 | Genic enhancers | Osteobl | bone |
| 13 | chr22:33202000-33220000 | Genic enhancers | Breast Myoepithelial Primary Cells | Breast |
| 14 | chr22:33202600-33206600 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 15 | chr22:33202600-33207000 | Enhancers | Fetal Intestine Small | intestine |
| 16 | chr22:33202600-33211200 | Weak transcription | Esophagus | oesophagus |
| 17 | chr22:33202600-33211800 | Weak transcription | Brain Substantia Nigra | brain |
| 18 | chr22:33203200-33223600 | Weak transcription | Brain Cingulate Gyrus | brain |
| 19 | chr22:33204000-33207000 | Genic enhancers | Fetal Muscle Leg | muscle |
| 20 | chr22:33204000-33208000 | Genic enhancers | HepG2 | liver |
| 21 | chr22:33204000-33208200 | Enhancers | Duodenum Smooth Muscle | Duodenum |
| 22 | chr22:33204000-33209800 | Genic enhancers | Left Ventricle | heart |
| 23 | chr22:33204000-33209800 | Genic enhancers | Right Ventricle | heart |
| 24 | chr22:33204200-33206800 | Genic enhancers | Lung | lung |
| 25 | chr22:33204200-33210000 | Enhancers | Psoas Muscle | Psoas |
| 26 | chr22:33204400-33206800 | Enhancers | Liver | Liver |
| 27 | chr22:33204400-33207000 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 28 | chr22:33204600-33206600 | Genic enhancers | Adipose Nuclei | Adipose |
| 29 | chr22:33204600-33211800 | Weak transcription | Colonic Mucosa | Colon |
| 30 | chr22:33204600-33220200 | Weak transcription | Brain Hippocampus Middle | brain |
| 31 | chr22:33204800-33207000 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 32 | chr22:33204800-33207800 | Enhancers | Rectal Smooth Muscle | rectum |
| 33 | chr22:33204800-33227800 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 34 | chr22:33205000-33206600 | Genic enhancers | Placenta Amnion | Placenta Amnion |
| 35 | chr22:33205000-33210400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 36 | chr22:33205000-33211000 | Weak transcription | Ovary | ovary |
| 37 | chr22:33205000-33211000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 38 | chr22:33205000-33211200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 39 | chr22:33205000-33211800 | Weak transcription | HSMM | muscle |
| 40 | chr22:33205000-33214600 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 41 | chr22:33205000-33216200 | Weak transcription | NHLF | lung |
| 42 | chr22:33205200-33206600 | Enhancers | Placenta | Placenta |
| 43 | chr22:33205200-33207000 | Genic enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 44 | chr22:33205200-33207600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 45 | chr22:33205200-33208600 | Weak transcription | NHDF-Ad | bronchial |
| 46 | chr22:33205200-33214200 | Enhancers | Colon Smooth Muscle | Colon |
| 47 | chr22:33205200-33219800 | Weak transcription | Brain Angular Gyrus | brain |
| 48 | chr22:33205400-33207000 | Genic enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 49 | chr22:33205600-33206800 | Genic enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 50 | chr22:33205600-33207000 | Genic enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
