rs226198 chr5:82278173 C>T
- Sequence
atgggccccttccgcgccggacca[C/T]gtgcctcctggagcggcgcttccc
- ASB in cell types
- K562 (myelogenous leukemia) Tet21N (neuroblastoma) HepG2 (hepatoblastoma) SK-N-SH (neuroblastoma)
- ASB for transcription factors
- MYCN_HUMAN MAX_HUMAN MNT_HUMAN MYC_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| MYCN_HUMAN | 1.61 | -0.82 | 1.00 | -4.35 | Concordant | |||
| MAX_HUMAN | 1.49 | -0.45 | 1.55 | 3.81 | Discordant | |||
| MNT_HUMAN | 1.41 | -1.32 | 1.75 | -3.58 | Concordant | |||
| MYC_HUMAN | 1.33 | 0.31 | 1.77 | -2.84 | Concordant | |||
| LMBL2_HUMAN | 1.69 | n/a | 2.00 | 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, Kidney_Cortex, 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