rs72674049 chr1:44819674 C>T
- Sequence
actctcccgccccaggagtctctg[C/T]cactctgactagagggcagtggcg
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney)
- ASB for transcription factors
- ZN282_HUMAN PKNX1_HUMAN FOXK2_HUMAN IKZF2_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 | |
|---|---|---|---|---|---|---|---|---|
| ZN282_HUMAN | 2.41 | -2.41 | 1.00 | n/a | n/a | |||
| PKNX1_HUMAN | -1.09 | 1.25 | 1.33 | 0.72 | Weak Concordant | |||
| FOXK2_HUMAN | 1.89 | -0.09 | 1.33 | n/a | n/a | |||
| IKZF2_HUMAN | 1.57 | -0.42 | 1.00 | n/a | n/a | |||
| STAG1_HUMAN | 1.24 | 0.18 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood