rs6656494 chr1:154867323 A>G
- Sequence
atgactaagtgagctgcgcttcca[A/G]gggaaaccccactcgcttctgctc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) MS-1 (Small cell lung carcinoma) GM12891 (male B- cells lymphoblastoid cell line) BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- IKZF1_HUMAN IKZF2_HUMAN CTCF_HUMAN STAG1_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| IKZF1_HUMAN | -2.46 | 2.93 | 1.00 | n/a | n/a | |||
| IKZF2_HUMAN | -1.75 | 2.09 | 1.00 | n/a | n/a | |||
| CTCF_HUMAN | 0.09 | 1.24 | 1.20 | 2.96 | Concordant | |||
| STAG1_HUMAN | -2.56 | 2.17 | 1.00 | n/a | n/a | |||
| GCR_HUMAN | -0.51 | 1.76 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood