rs686852 chr8:60652212 C>A
- Sequence
ggcatgtgccgccacccgcctccg[C/A]ctcgcagactccggggccgggacg
- ASB in cell types
- K562 (myelogenous leukemia) T47D (invasive ductal carcinoma) A549 (lung carcinoma) neural cell
- ASB for transcription factors
- HIF3A_HUMAN HIF1A_HUMAN VEZF1_HUMAN TYY1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| HIF3A_HUMAN | 2.30 | -3.93 | 1.50 | n/a | No Hit | |||
| HIF1A_HUMAN | 2.57 | -0.11 | 1.88 | n/a | No Hit | |||
| VEZF1_HUMAN | 2.12 | -4.03 | 2.00 | -2.77 | Concordant | |||
| TYY1_HUMAN | -0.25 | 1.38 | 1.50 | n/a | No Hit | |||
| ARNT_HUMAN | 2.36 | 0.91 | 1.67 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood