rs6020064 chr20:49812972 G>C
- Sequence
agtgagtgggctttttcccgggcg[G/C]cggaggcggcggggctgggccccg
- ASB in cell types
- HEK293 (embryonic kidney) foreskin keratinocyte K562 (myelogenous leukemia) MOLM14 (Adult acute myeloid leukemia)
- ASB for transcription factors
- EGR1_HUMAN EGR2_HUMAN MED26_HUMAN CDK8_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | 1.53 | 0.07 | 2.00 | -5.18 | Concordant | |||
| EGR2_HUMAN | 2.42 | n/a | 2.00 | -2.48 | Concordant | |||
| MED26_HUMAN | 2.63 | -2.25 | 1.00 | n/a | n/a | |||
| CDK8_HUMAN | 1.45 | -0.67 | 1.00 | n/a | n/a | |||
| ARI1A_HUMAN | -1.86 | 2.46 | 2.50 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood