rs228067 chr21:42539967 C>A
- Sequence
ataagtttgaaatgttttatcttg[C/A]gaaagatttgaccacttaggggtt
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- ZN316_HUMAN EMSY_HUMAN CEBPB_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 | |
|---|---|---|---|---|---|---|---|---|
| ZN316_HUMAN | 0.07 | 3.00 | 1.33 | n/a | n/a | |||
| EMSY_HUMAN | -2.32 | 2.14 | 1.33 | n/a | n/a | |||
| CEBPB_HUMAN | 1.83 | -1.52 | 1.33 | -4.28 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Brain_Caudate_basal_ganglia, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Liver, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood