rs434352 chr6:5135982 G>C
- Sequence
gtctgtagggggactctagggacc[G/C]ccgtaagtggaatcatacagcatt
- ASB in cell types
- foreskin keratinocyte liver GM12878 (female B-cells) MCF7 (Invasive ductal breast carcinoma)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN RFX1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.41 | 0.61 | 1.71 | -2.66 | Concordant | |||
| RAD21_HUMAN | 2.27 | 0.17 | 1.78 | n/a | n/a | |||
| RFX1_HUMAN | 1.58 | 0.15 | 2.33 | -0.75 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cortex, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood