Variant report
| Variant | rs2077511 |
|---|---|
| Chromosome Location | chr12:12473526-12473527 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:12466000-12484600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:12467000-12484400 | Weak transcription | Small Intestine | intestine |
| 3 | chr12:12470600-12480800 | Weak transcription | K562 | blood |
| 4 | chr12:12472000-12473800 | Enhancers | Rectal Mucosa Donor 31 | rectum |
| 5 | chr12:12472200-12474200 | Enhancers | Fetal Intestine Large | intestine |
| 6 | chr12:12472200-12474200 | Enhancers | Fetal Intestine Small | intestine |
| 7 | chr12:12472400-12473600 | Enhancers | H1 Cell Line | embryonic stem cell |
| 8 | chr12:12472400-12473600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 9 | chr12:12472400-12473600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 10 | chr12:12472400-12473800 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 11 | chr12:12472400-12473800 | Enhancers | Colonic Mucosa | Colon |
| 12 | chr12:12472400-12474000 | Enhancers | Pancreas | Pancrea |
| 13 | chr12:12472600-12473600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 14 | chr12:12472600-12473600 | Flanking Active TSS | H9 Derived Neuron Cultured Cells | ES cell derived |
| 15 | chr12:12472600-12473600 | Active TSS | Stomach Smooth Muscle | stomach |
| 16 | chr12:12472600-12473800 | Flanking Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
| 17 | chr12:12472800-12473600 | Flanking Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 18 | chr12:12472800-12473600 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 19 | chr12:12472800-12473600 | Flanking Active TSS | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 20 | chr12:12472800-12473600 | Active TSS | Ovary | ovary |
| 21 | chr12:12472800-12473600 | Enhancers | HUVEC | blood vessel |
| 22 | chr12:12472800-12473600 | Flanking Active TSS | Osteobl | bone |
| 23 | chr12:12472800-12473800 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 24 | chr12:12472800-12473800 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
| 25 | chr12:12472800-12473800 | Enhancers | Sigmoid Colon | Sigmoid Colon |
| 26 | chr12:12472800-12474200 | Flanking Active TSS | HepG2 | liver |
| 27 | chr12:12472800-12476800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 28 | chr12:12472800-12480400 | Weak transcription | Brain Angular Gyrus | brain |
| 29 | chr12:12473000-12473600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 30 | chr12:12473000-12473600 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 31 | chr12:12473000-12473600 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 32 | chr12:12473000-12473600 | Flanking Active TSS | Fetal Adrenal Gland | Adrenal Gland |
| 33 | chr12:12473000-12473600 | Active TSS | Fetal Lung | lung |
| 34 | chr12:12473000-12473600 | Active TSS | Rectal Smooth Muscle | rectum |
| 35 | chr12:12473000-12473600 | Active TSS | Right Atrium | heart |
| 36 | chr12:12473000-12473600 | Flanking Active TSS | NH-A | brain |
| 37 | chr12:12473000-12473800 | Enhancers | Brain Germinal Matrix | brain |
| 38 | chr12:12473000-12473800 | Flanking Active TSS | A549 | lung |
| 39 | chr12:12473000-12474000 | Weak transcription | Brain Substantia Nigra | brain |
| 40 | chr12:12473000-12482800 | Weak transcription | Gastric | stomach |
| 41 | chr12:12473000-12483000 | Weak transcription | Brain Hippocampus Middle | brain |
| 42 | chr12:12473200-12473600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 43 | chr12:12473200-12473600 | Active TSS | IMR90 fetal lung fibroblasts Cell Line | lung |
| 44 | chr12:12473200-12473600 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 45 | chr12:12473200-12473600 | Flanking Active TSS | Duodenum Mucosa | Duodenum |
| 46 | chr12:12473200-12473600 | Active TSS | Fetal Muscle Trunk | muscle |
| 47 | chr12:12473200-12473600 | Flanking Active TSS | Fetal Muscle Leg | muscle |
| 48 | chr12:12473200-12473600 | Active TSS | Fetal Stomach | stomach |
| 49 | chr12:12473200-12473600 | Weak transcription | Lung | lung |
| 50 | chr12:12473200-12473600 | Active TSS | Skeletal Muscle Male | skeletal muscle |
