rs17373080 chr19:50376267 C>G
- Sequence
aagcgcatgaatgagctaaagcca[C/G]aaagcgcggggctggaggtttggc
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) SET2 (Adult acute megakaryoblastic leukemia, Homo Sapiens)
- ASB for transcription factors
- ZN768_HUMAN NRF1_HUMAN STAT1_HUMAN E2F1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZN768_HUMAN | 3.22 | n/a | 2.00 | -4.31 | Concordant | |||
| NRF1_HUMAN | -1.59 | 2.74 | 2.00 | n/a | No Hit | |||
| STAT1_HUMAN | 1.94 | 0.43 | 2.50 | n/a | No Hit | |||
| E2F1_HUMAN | -0.70 | 2.17 | 1.83 | n/a | No Hit | |||
| RB_HUMAN | n/a | 2.51 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, 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_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Vagina, Whole_Blood