rs12747275 chr1:92960984 G>A
- Sequence
ctgcgggggcccacgggggagggg[G/A]gaaagccccgaaaacaccagggag
- ASB in cell types
- HEK293 (embryonic kidney) GBM39 (Human brain tumor) HEK293T (embryonic kidney)
- ASB for transcription factors
- SMC3_HUMAN NFKB1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SMC3_HUMAN | -1.30 | 2.15 | 2.00 | n/a | n/a | |||
| NFKB1_HUMAN | 2.26 | -4.50 | 2.00 | -1.49 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cortex, Brain_Substantia_nigra, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood