rs1109895 chr1:58546759 C>T
- Sequence
cccgacctatgcgcaggcgcgcac[C/T]cgcacttcctgcccgccataccgg
- ASB in cell types
- K562 (myelogenous leukemia) foreskin keratinocyte CD34+ stem cells-derived erythroblasts liver
- ASB for transcription factors
- EGR1_HUMAN NRF1_HUMAN CTCFL_HUMAN CTCF_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | 1.59 | 0.11 | 1.53 | n/a | No Hit | |||
| NRF1_HUMAN | 0.69 | 0.14 | 1.89 | 0.00 | Weak Discordant | |||
| CTCFL_HUMAN | 1.88 | -0.18 | 1.50 | n/a | No Hit | |||
| CTCF_HUMAN | 0.41 | 0.69 | 1.50 | n/a | No Hit | |||
| SMC3_HUMAN | 0.87 | -0.55 | 1.50 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Thyroid, Whole_Blood