Variant report
| Variant | rs1230648 |
|---|---|
| Chromosome Location | chr1:114249500-114249501 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:114203200-114298600 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr1:114216200-114279800 | Weak transcription | Stomach Smooth Muscle | stomach |
| 3 | chr1:114216400-114250400 | Weak transcription | Placenta | Placenta |
| 4 | chr1:114220400-114263800 | Weak transcription | Fetal Kidney | kidney |
| 5 | chr1:114227000-114268200 | Weak transcription | NHLF | lung |
| 6 | chr1:114227400-114252000 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 7 | chr1:114228000-114287800 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 8 | chr1:114228400-114249800 | Weak transcription | Hela-S3 | cervix |
| 9 | chr1:114231000-114251200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 10 | chr1:114236400-114300000 | Weak transcription | Small Intestine | intestine |
| 11 | chr1:114237400-114256600 | Weak transcription | Colonic Mucosa | Colon |
| 12 | chr1:114238000-114251400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 13 | chr1:114238000-114252800 | Weak transcription | Duodenum Mucosa | Duodenum |
| 14 | chr1:114238000-114258200 | Weak transcription | Fetal Heart | heart |
| 15 | chr1:114238200-114250200 | Weak transcription | Brain Cingulate Gyrus | brain |
| 16 | chr1:114238200-114252200 | Weak transcription | Fetal Brain Female | brain |
| 17 | chr1:114238200-114256000 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 18 | chr1:114238200-114264400 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
| 19 | chr1:114238400-114266800 | Weak transcription | NHEK | skin |
| 20 | chr1:114238800-114251000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 21 | chr1:114238800-114252400 | Weak transcription | Primary T cells fromperipheralblood | blood |
| 22 | chr1:114238800-114252800 | Weak transcription | Fetal Intestine Large | intestine |
| 23 | chr1:114238800-114252800 | Weak transcription | K562 | blood |
| 24 | chr1:114239000-114260400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 25 | chr1:114239200-114279800 | Weak transcription | Colon Smooth Muscle | Colon |
| 26 | chr1:114239400-114258600 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 27 | chr1:114239600-114249800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 28 | chr1:114239800-114250800 | Weak transcription | HepG2 | liver |
| 29 | chr1:114240200-114260800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 30 | chr1:114240200-114279400 | Weak transcription | Psoas Muscle | Psoas |
| 31 | chr1:114242000-114300000 | Weak transcription | Rectal Smooth Muscle | rectum |
| 32 | chr1:114242200-114249600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 33 | chr1:114242200-114249600 | Weak transcription | HSMM | muscle |
| 34 | chr1:114242200-114250000 | Weak transcription | Brain Angular Gyrus | brain |
| 35 | chr1:114242200-114250200 | Weak transcription | Left Ventricle | heart |
| 36 | chr1:114242200-114250400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 37 | chr1:114242200-114250400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 38 | chr1:114242200-114250400 | Weak transcription | Brain Anterior Caudate | brain |
| 39 | chr1:114242200-114250400 | Weak transcription | Fetal Muscle Trunk | muscle |
| 40 | chr1:114242200-114250800 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
| 41 | chr1:114242200-114250800 | Weak transcription | Gastric | stomach |
| 42 | chr1:114242200-114250800 | Weak transcription | Pancreas | Pancrea |
| 43 | chr1:114242200-114251200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 44 | chr1:114242200-114252000 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
| 45 | chr1:114242200-114252000 | Weak transcription | NHDF-Ad | bronchial |
| 46 | chr1:114242200-114252600 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 47 | chr1:114242200-114252800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 48 | chr1:114242200-114252800 | Weak transcription | Fetal Intestine Small | intestine |
| 49 | chr1:114242200-114256200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 50 | chr1:114242200-114256200 | Weak transcription | Right Ventricle | heart |
