rs72666512 chr8:65644608 C>A
- Sequence
actctcagcagccggcttgcggag[C/A]ggttgccgcgtcctctgccgagct
- ASB in cell types
- breast tumor K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- RBM25_HUMAN ESR1_HUMAN P66B_HUMAN RBBP5_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| RBM25_HUMAN | 1.42 | -0.22 | 5.00 | n/a | n/a | |||
| ESR1_HUMAN | 3.09 | 1.78 | 2.00 | 2.63 | Discordant | |||
| P66B_HUMAN | n/a | 3.00 | 2.00 | n/a | n/a | |||
| RBBP5_HUMAN | 1.93 | n/a | 2.50 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, 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, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood