Variant report
| Variant | rs2930120 |
|---|---|
| Chromosome Location | chr12:68313812-68313813 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:68307600-68318800 | Weak transcription | Fetal Heart | heart |
| 2 | chr12:68310000-68317600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr12:68310400-68319000 | Weak transcription | Left Ventricle | heart |
| 4 | chr12:68310600-68317000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 5 | chr12:68310600-68317400 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 6 | chr12:68310600-68318200 | Weak transcription | Fetal Muscle Leg | muscle |
| 7 | chr12:68310600-68329800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 8 | chr12:68311400-68314000 | Enhancers | NHDF-Ad | bronchial |
| 9 | chr12:68312000-68317000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 10 | chr12:68312200-68315000 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 11 | chr12:68312200-68315800 | Enhancers | HSMMtube | muscle |
| 12 | chr12:68312400-68316200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 13 | chr12:68312800-68314000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 14 | chr12:68312800-68315200 | Enhancers | NH-A | brain |
| 15 | chr12:68313000-68314000 | Enhancers | A549 | lung |
| 16 | chr12:68313000-68314600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 17 | chr12:68313000-68314600 | Enhancers | HSMM | muscle |
| 18 | chr12:68313000-68315000 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 19 | chr12:68313000-68315200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 20 | chr12:68313000-68316000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 21 | chr12:68313200-68314000 | Enhancers | Colon Smooth Muscle | Colon |
| 22 | chr12:68313200-68314200 | Enhancers | Sigmoid Colon | Sigmoid Colon |
| 23 | chr12:68313200-68315400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 24 | chr12:68313200-68315400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 25 | chr12:68313200-68316200 | Enhancers | Fetal Intestine Large | intestine |
| 26 | chr12:68313200-68316200 | Enhancers | Fetal Intestine Small | intestine |
| 27 | chr12:68313400-68314000 | Enhancers | Fetal Kidney | kidney |
| 28 | chr12:68313400-68314000 | Enhancers | Rectal Smooth Muscle | rectum |
| 29 | chr12:68313400-68314400 | Enhancers | Primary B cells from peripheral blood | blood |
| 30 | chr12:68313400-68315200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 31 | chr12:68313400-68315400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 32 | chr12:68313400-68315400 | Enhancers | Stomach Mucosa | stomach |
| 33 | chr12:68313600-68314000 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 34 | chr12:68313600-68314200 | Enhancers | Brain Angular Gyrus | brain |
| 35 | chr12:68313600-68315000 | Enhancers | H9 Cell Line | embryonic stem cell |
| 36 | chr12:68313600-68315200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 37 | chr12:68313600-68315200 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 38 | chr12:68313600-68315400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 39 | chr12:68313800-68314400 | Enhancers | Placenta Amnion | Placenta Amnion |
| 40 | chr12:68313800-68314400 | Flanking Active TSS | HMEC | breast |
| 41 | chr12:68313800-68315200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 42 | chr12:68313800-68315200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 43 | chr12:68313800-68315200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 44 | chr12:68313800-68315200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 45 | chr12:68313800-68315200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 46 | chr12:68313800-68315200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 47 | chr12:68313800-68315200 | Enhancers | Gastric | stomach |
| 48 | chr12:68313800-68315200 | Enhancers | Pancreas | Pancrea |
| 49 | chr12:68313800-68315200 | Enhancers | Small Intestine | intestine |
| 50 | chr12:68313800-68315200 | Flanking Active TSS | NHEK | skin |
