Variant report
| Variant | rs530071 |
|---|---|
| Chromosome Location | chr12:40422573-40422574 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40394400-40448400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr12:40402200-40425600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 3 | chr12:40405400-40445200 | Weak transcription | K562 | blood |
| 4 | chr12:40405800-40425800 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 5 | chr12:40405800-40426000 | Weak transcription | Pancreas | Pancrea |
| 6 | chr12:40406000-40423200 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 7 | chr12:40406600-40423200 | Weak transcription | Stomach Smooth Muscle | stomach |
| 8 | chr12:40406600-40425800 | Weak transcription | Liver | Liver |
| 9 | chr12:40407800-40426000 | Weak transcription | Duodenum Mucosa | Duodenum |
| 10 | chr12:40409600-40426000 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 11 | chr12:40411400-40428200 | Weak transcription | Colon Smooth Muscle | Colon |
| 12 | chr12:40411400-40428600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 13 | chr12:40411600-40424000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 14 | chr12:40411600-40425600 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 15 | chr12:40411600-40426200 | Weak transcription | Esophagus | oesophagus |
| 16 | chr12:40411800-40425200 | Weak transcription | Fetal Intestine Small | intestine |
| 17 | chr12:40411800-40425600 | Weak transcription | Fetal Intestine Large | intestine |
| 18 | chr12:40411800-40425600 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 19 | chr12:40411800-40426400 | Weak transcription | Right Ventricle | heart |
| 20 | chr12:40415000-40426000 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 21 | chr12:40416200-40425400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 22 | chr12:40416600-40425400 | Weak transcription | Psoas Muscle | Psoas |
| 23 | chr12:40416600-40441800 | Weak transcription | Ovary | ovary |
| 24 | chr12:40417000-40426000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 25 | chr12:40417000-40426400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 26 | chr12:40417200-40423000 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 27 | chr12:40417200-40425200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 28 | chr12:40417200-40425400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 29 | chr12:40417200-40425600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 30 | chr12:40419000-40428600 | Weak transcription | Aorta | Aorta |
| 31 | chr12:40419000-40447600 | Weak transcription | Hela-S3 | cervix |
| 32 | chr12:40420800-40423200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 33 | chr12:40420800-40426000 | Weak transcription | Fetal Kidney | kidney |
| 34 | chr12:40421200-40422600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 35 | chr12:40421600-40427000 | Weak transcription | Brain Anterior Caudate | brain |
| 36 | chr12:40421600-40428000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 37 | chr12:40421600-40453400 | Weak transcription | Left Ventricle | heart |
| 38 | chr12:40421800-40427800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 39 | chr12:40422000-40422600 | Enhancers | NHEK | skin |
| 40 | chr12:40422200-40422600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
