rs595359 chr11:119121792 T>G
- Sequence
ctccctgctttctagtctaggggc[T/G]tcgctgcggctgagactcggtcgc
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells)
- ASB for transcription factors
- MNT_HUMAN HDAC1_HUMAN CTCF_HUMAN NRF1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| MNT_HUMAN | -2.73 | 2.17 | 2.00 | n/a | n/a | |||
| HDAC1_HUMAN | -0.78 | 2.20 | 2.00 | n/a | n/a | |||
| CTCF_HUMAN | 0.09 | 0.71 | 1.33 | n/a | No Hit | |||
| NRF1_HUMAN | -2.34 | 1.94 | 2.00 | n/a | No Hit | |||
| NFIC_HUMAN | -3.21 | 2.38 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, 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, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Vagina, Whole_Blood