rs16897900 chr6:30788116 C>A
- Sequence
caacctcctgctgcaaaattgtgc[C/A]ataaatccccatgagtgttcagtg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) EOL-1 (Acute myeloid leukemia) HepG2 (hepatoblastoma) BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- SMRC1_HUMAN CEBPA_HUMAN IKZF1_HUMAN GCR_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| SMRC1_HUMAN | n/a | 3.12 | 2.00 | n/a | n/a | |||
| CEBPA_HUMAN | -0.33 | 2.26 | 2.17 | 8.01 | Concordant | |||
| IKZF1_HUMAN | -1.75 | 2.11 | 1.25 | n/a | No Hit | |||
| GCR_HUMAN | -0.45 | 1.83 | 1.00 | n/a | No Hit | |||
| IKZF2_HUMAN | -0.56 | 1.95 | 1.00 | 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_Amygdala, Brain_Anterior_cingulate_cortex_BA24, 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, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, 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, Whole_Blood