rs820156 chr17:75667292 A>T
- Sequence
agtgtggcgcgggggtctcctggg[A/T]tccgaaagaacctgcctttccgcc
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) HUVEC-C (HUVEC, umbilical vein endothelial cells) 22RV1 (prostate carcinoma)
- ASB for transcription factors
- MEF2B_HUMAN EMSY_HUMAN RBBP5_HUMAN COE1_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| MEF2B_HUMAN | 3.77 | n/a | 1.50 | n/a | No Hit | |||
| EMSY_HUMAN | 0.52 | n/a | 2.00 | n/a | n/a | |||
| RBBP5_HUMAN | 2.34 | n/a | 2.50 | n/a | n/a | |||
| COE1_HUMAN | 2.67 | -4.67 | 1.50 | -3.40 | Concordant | |||
| ELF1_HUMAN | 1.59 | 0.48 | 1.83 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Whole_Blood