rs617219 chr5:79133771 A>C
- Sequence
ccctaaaggaaacaagaactgcgc[A/C]ggaatgaatcaagaacatccgttc
- ASB in cell types
- K562 (myelogenous leukemia) A549 (lung carcinoma) GM12878 (female B-cells)
- ASB for transcription factors
- SMC3_HUMAN CTCF_HUMAN RAD21_HUMAN ATF4_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| SMC3_HUMAN | 1.19 | -0.33 | 1.88 | n/a | n/a | |||
| CTCF_HUMAN | 0.66 | 0.46 | 1.42 | n/a | No Hit | |||
| RAD21_HUMAN | 1.05 | 0.31 | 1.70 | n/a | n/a | |||
| ATF4_HUMAN | n/a | 2.46 | 2.00 | n/a | No Hit | |||
| NCOA2_HUMAN | -1.73 | 1.75 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood