rs113716580 chr8:30083009 T>C
- Sequence
cctacgggccgaacctgggtgcgg[T/C]agcgcgcgcgacgctgcgcagcta
- ASB in cell types
- K562 (myelogenous leukemia) CD34+ hematopoietic stem cells-derived proerythroblasts
- ASB for transcription factors
- RFOX2_HUMAN TYY1_HUMAN EGR1_HUMAN CTCFL_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 | |
|---|---|---|---|---|---|---|---|---|
| RFOX2_HUMAN | 3.37 | n/a | 2.00 | n/a | n/a | |||
| TYY1_HUMAN | 2.67 | 0.59 | 1.50 | n/a | No Hit | |||
| EGR1_HUMAN | 2.57 | -4.38 | 1.67 | n/a | No Hit | |||
| CTCFL_HUMAN | 1.83 | -4.48 | 2.00 | 0.86 | Weak Discordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid, Whole_Blood