rs147102012 chr3:53881831 C>G
- Sequence
ctcggcgtcccggcgcgccaccac[C/G]cggaaaagaacgaccgcttccgca
- ASB in cell types
- neural cell RWPE2 OVCAR8 (high grade ovarian serous adenocarcinoma) CUTLL1 (T-cell lymphoblastic lymphoma 1)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN MXI1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | -2.22 | 2.66 | 1.50 | 0.73 | Weak Concordant | |||
| RAD21_HUMAN | -1.54 | 1.54 | 1.00 | n/a | n/a | |||
| MXI1_HUMAN | -1.83 | 2.22 | 1.00 | 4.03 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Stomach, Testis, Thyroid, Whole_Blood