rs2356782 chr2:171522379 C>G
- Sequence
tgagttggggccagctccccaccc[C/G]caagaggccccacattccgggcca
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia) HeLa (cervical adenocarcinoma)
- ASB for transcription factors
- VEZF1_HUMAN ZN148_HUMAN INT11_HUMAN SRF_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| VEZF1_HUMAN | -1.33 | 1.64 | 1.00 | -2.64 | Discordant | |||
| ZN148_HUMAN | 2.48 | -0.22 | 1.50 | -5.46 | Concordant | |||
| INT11_HUMAN | 0.44 | 1.11 | 2.00 | n/a | n/a | |||
| SRF_HUMAN | -1.64 | 2.19 | 1.00 | n/a | No Hit |
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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, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Spleen, Testis, Thyroid, Whole_Blood