rs536621 chr1:52843425 A>G
- Sequence
tttccccacccgtgttgtggacgc[A/G]gcgccccgcggaggcggtgaccct
- ASB in cell types
- GM12890 (Lymphoblastoid Cell Lines) GM12892 (female B-cells lymphoblastoid cell line) GM12878 (female B-cells lymphoblastoid cell line) neural progenitors
- ASB for transcription factors
- CTCF_HUMAN COT1_HUMAN EZH2_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 2.05 | -0.52 | 1.15 | 0.13 | Weak Discordant | |||
| COT1_HUMAN | -1.95 | 2.39 | 1.00 | n/a | No Hit | |||
| EZH2_HUMAN | 1.16 | -0.57 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Mucosa, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood