rs488223 chr17:48830996 A>T
- Sequence
tgacgtgtgggcggggcaggcggg[A/T]cgggctctcccttgggtgcttagc
- ASB in cell types
- K562 (myelogenous leukemia) MDA-MB-453 (breast adenocarcinoma) GM12878 (female B-cells) T47D (invasive ductal carcinoma)
- ASB for transcription factors
- HIF1A_HUMAN NR2C1_HUMAN NRF1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| HIF1A_HUMAN | 2.21 | -3.09 | 2.00 | n/a | No Hit | |||
| NR2C1_HUMAN | -0.01 | 1.74 | 1.78 | n/a | No Hit | |||
| NRF1_HUMAN | -0.97 | 1.75 | 2.00 | -0.43 | Weak Discordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid