rs234376 chr5:177497495 G>C
- Sequence
gcaggccccgggcgcccgcctggt[G/C]cagcccaagacgccccgcgcggtc
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) HEK293T (embryonic kidney) GM12878 (female B-cells)
- ASB for transcription factors
- FOXK2_HUMAN CTCF_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| FOXK2_HUMAN | 1.59 | -1.31 | 1.33 | n/a | n/a | |||
| CTCF_HUMAN | 0.57 | 0.40 | 1.16 | -4.09 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood