Variant report
| Variant | rs12052754 |
|---|---|
| Chromosome Location | chr2:48598849-48598850 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:48571200-48605200 | Weak transcription | Colonic Mucosa | Colon |
| 2 | chr2:48573600-48604000 | Weak transcription | Ovary | ovary |
| 3 | chr2:48574200-48602000 | Weak transcription | Gastric | stomach |
| 4 | chr2:48574600-48602000 | Weak transcription | Small Intestine | intestine |
| 5 | chr2:48576200-48602000 | Weak transcription | Lung | lung |
| 6 | chr2:48576600-48602000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 7 | chr2:48577800-48602000 | Weak transcription | Fetal Kidney | kidney |
| 8 | chr2:48577800-48603800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 9 | chr2:48578600-48604800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 10 | chr2:48580600-48601800 | Weak transcription | Hela-S3 | cervix |
| 11 | chr2:48580800-48599800 | Weak transcription | NHEK | skin |
| 12 | chr2:48580800-48602000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 13 | chr2:48580800-48602000 | Weak transcription | Osteobl | bone |
| 14 | chr2:48580800-48604000 | Weak transcription | Aorta | Aorta |
| 15 | chr2:48581400-48600800 | Weak transcription | Spleen | Spleen |
| 16 | chr2:48581400-48601800 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
| 17 | chr2:48581400-48602000 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 18 | chr2:48581400-48602000 | Weak transcription | Rectal Smooth Muscle | rectum |
| 19 | chr2:48581400-48608000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 20 | chr2:48581800-48602000 | Weak transcription | Pancreas | Pancrea |
| 21 | chr2:48581800-48602000 | Weak transcription | Right Ventricle | heart |
| 22 | chr2:48581800-48604800 | Weak transcription | Psoas Muscle | Psoas |
| 23 | chr2:48582000-48600800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 24 | chr2:48584400-48602000 | Weak transcription | Brain Angular Gyrus | brain |
| 25 | chr2:48584600-48601000 | Weak transcription | Fetal Lung | lung |
| 26 | chr2:48584800-48604400 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 27 | chr2:48585000-48600600 | Weak transcription | HUVEC | blood vessel |
| 28 | chr2:48586000-48602000 | Weak transcription | Brain Germinal Matrix | brain |
| 29 | chr2:48588000-48602000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 30 | chr2:48589400-48607400 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 31 | chr2:48589800-48602000 | Weak transcription | Brain Anterior Caudate | brain |
| 32 | chr2:48590000-48602000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 33 | chr2:48590000-48602000 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
| 34 | chr2:48590000-48607400 | Weak transcription | Brain Cingulate Gyrus | brain |
| 35 | chr2:48590200-48600800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 36 | chr2:48590200-48601800 | Weak transcription | Brain Substantia Nigra | brain |
| 37 | chr2:48590200-48601800 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
| 38 | chr2:48590200-48602000 | Weak transcription | Primary T killer naive cells fromperipheralblood | blood |
| 39 | chr2:48590800-48601200 | Weak transcription | HMEC | breast |
| 40 | chr2:48591000-48600000 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 41 | chr2:48591000-48601000 | Weak transcription | Brain Hippocampus Middle | brain |
| 42 | chr2:48591200-48602000 | Weak transcription | Thymus | Thymus |
| 43 | chr2:48591600-48601200 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 44 | chr2:48591600-48602000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 45 | chr2:48591600-48605000 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 46 | chr2:48592200-48600800 | Weak transcription | Duodenum Mucosa | Duodenum |
| 47 | chr2:48592800-48602000 | Weak transcription | Stomach Smooth Muscle | stomach |
| 48 | chr2:48592800-48602000 | Weak transcription | NHLF | lung |
| 49 | chr2:48592800-48605400 | Strong transcription | HepG2 | liver |
| 50 | chr2:48593000-48599800 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
