rs2027547 chr1:3822726 G>A
- Sequence
cccacttgcctgctgagtcactgc[G/A]tagtgcactggggcagggaggaga
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- EMSY_HUMAN MNT_HUMAN NFE2_HUMAN ZN316_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| EMSY_HUMAN | -1.79 | 1.58 | 1.33 | n/a | n/a | |||
| MNT_HUMAN | -0.88 | 1.43 | 1.33 | n/a | n/a | |||
| NFE2_HUMAN | 0.90 | 2.01 | 1.42 | n/a | No Hit | |||
| ZN316_HUMAN | -0.82 | 1.60 | 1.33 | n/a | n/a | |||
| LMBL2_HUMAN | -2.03 | 1.85 | 1.33 | 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_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Kidney_Cortex, 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, Thyroid, Vagina, Whole_Blood