rs4760696 chr12:48198193 C>A
- Sequence
gtgttccccagaggttgtcaggtt[C/A]ccgcaattcggcgcgggcgaggcg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) neural cell renal cortex BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- SIX2_HUMAN GCR_HUMAN CTCF_HUMAN RUNX3_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| SIX2_HUMAN | n/a | 2.40 | 1.00 | 2.89 | Concordant | |||
| GCR_HUMAN | -0.60 | 1.61 | 1.00 | n/a | No Hit | |||
| CTCF_HUMAN | 0.71 | 1.00 | 1.05 | 1.05 | Weak Discordant | |||
| RUNX3_HUMAN | -2.00 | 2.37 | 1.00 | 4.11 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, Artery_Aorta, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood