rs12030469 chr1:16056235 C>T
- Sequence
ttaggtcctgtttacctgcggccc[C/T]gcccagacccttgcatggactctg
- ASB in cell types
- WA01 (H1, human embryonic stem cells) primary foreskin fibroblasts CUTLL1 (T-cell lymphoblastic lymphoma 1) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- STAG1_HUMAN FOXP1_HUMAN FOXK2_HUMAN CREB1_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 | |
|---|---|---|---|---|---|---|---|---|
| STAG1_HUMAN | -0.18 | 0.38 | 1.04 | n/a | n/a | |||
| FOXP1_HUMAN | 2.04 | n/a | 2.00 | n/a | No Hit | |||
| FOXK2_HUMAN | 1.89 | -3.49 | 1.50 | n/a | No Hit | |||
| CREB1_HUMAN | 2.33 | -1.93 | 1.00 | n/a | No Hit | |||
| ZN426_HUMAN | 2.54 | n/a | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, 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, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Thyroid