rs3747570 chr16:4273966 T>C
- Sequence
ttcataacaaagcccgtgtgggac[T/C]tgcccctccgccaggatgcgctcc
- ASB in cell types
- bipolar neuron GM12878 (female B-cells lymphoblastoid cell line) GM12892 (female B-cells lymphoblastoid cell line) pancreas
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN IKZF2_HUMAN NFKB2_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.77 | 2.42 | 1.49 | n/a | No Hit | |||
| RAD21_HUMAN | -2.01 | 2.96 | 1.17 | n/a | n/a | |||
| IKZF2_HUMAN | -0.34 | 2.39 | 1.00 | n/a | n/a | |||
| NFKB2_HUMAN | -2.12 | 2.51 | 1.00 | -2.79 | Discordant | |||
| SMCA5_HUMAN | 0.14 | 2.62 | 1.50 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Tibial, Brain_Cortex, Brain_Spinal_cord_cervical_c-1, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Sun_Exposed_Lower_leg, Stomach, Thyroid, Whole_Blood