rs6503807 chr17:47695566 T>C
- Sequence
actctgggatcctgcgggaggaag[T/C]ggggaagttgggcgggggtgcagc
- ASB in cell types
- K562 (myelogenous leukemia) Kasumi-1 (acute myeloblastic leukemia) THP-1 (acute monocytic leukemia) CD14+ monocytes
- ASB for transcription factors
- IKZF1_HUMAN SPI1_HUMAN STAT1_HUMAN NFIC_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 | |
|---|---|---|---|---|---|---|---|---|
| IKZF1_HUMAN | 2.46 | -0.49 | 1.50 | n/a | No Hit | |||
| SPI1_HUMAN | 1.82 | 1.73 | 2.00 | -2.51 | Concordant | |||
| STAT1_HUMAN | 1.53 | -0.44 | 2.00 | n/a | No Hit | |||
| NFIC_HUMAN | 2.53 | n/a | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP bipolar disorder, college completion, height, infant head circumference, ldl cholesterol, total cholesterol, years of education
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, 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, 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, Uterus, Vagina, Whole_Blood