rs807742 chr22:19115834 T>C
- Sequence
ggcagacactcctcagagccactg[T/C]actctgccacctcctgagggagct
- ASB in cell types
- GM02255 (Lymphoblastoid Cell Lines) GM19240 (B cells Lymphoblastoid Cell Lines) glioblastoma cells LUHMES (lund human mesencephalic cells)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN STAG1_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | -0.06 | 2.13 | 1.58 | -0.24 | Weak Discordant | |||
| RAD21_HUMAN | -0.79 | 2.02 | 1.17 | n/a | n/a | |||
| STAG1_HUMAN | -1.09 | 1.28 | 2.78 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Vagina, Whole_Blood