rs3738484 chr1:150579854 G>T
- Sequence
ggtcttcggaggctctgagtgccg[G/T]ttacgtaacggcggctccgagcgc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) HL-60 (acute myeloid leukemia) brain prefrontal cortex region tissues RCC 7860 (Renal cell carcinoma)
- ASB for transcription factors
- RFOX2_HUMAN NFIL3_HUMAN OLIG2_HUMAN ESR1_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| RFOX2_HUMAN | 0.04 | 2.24 | 1.88 | n/a | n/a | |||
| NFIL3_HUMAN | 1.46 | -2.46 | 1.25 | -2.89 | Concordant | |||
| OLIG2_HUMAN | 1.80 | -1.20 | 1.00 | n/a | No Hit | |||
| ESR1_HUMAN | 1.47 | 0.04 | 2.39 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, 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, Testis, Thyroid, Vagina, Whole_Blood