rs7087 chr1:26170160 T>C
- Sequence
cgaccccgacctgccagggggcgg[T/C]ctgcaccgctgtctggcctgcgcg
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) GM19240 (B cells Lymphoblastoid Cell Lines) GM18505 (female B-cells Lymphoblastoid Cell Lines)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN NR2C1_HUMAN MNT_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 | 1.18 | 0.27 | 1.23 | -0.29 | Weak Concordant | |||
| STAG1_HUMAN | 1.23 | -0.08 | 1.00 | n/a | n/a | |||
| NR2C1_HUMAN | 1.79 | 0.39 | 1.00 | n/a | No Hit | |||
| MNT_HUMAN | 1.29 | -0.45 | 1.00 | n/a | No Hit | |||
| EP400_HUMAN | 0.92 | -0.92 | 1.00 | 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, Brain_Spinal_cord_cervical_c-1, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood