rs3966782 chr17:4903803 T>C
- Sequence
atcctactctcctaaacacacacg[T/C]gcacacatacacacacacctgatg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) TMD8 (diffuse large B-cell lymphoma) CD34+ stem cells-derived erythroblasts neutrophils from periferal blood
- ASB for transcription factors
- BHE40_HUMAN ITF2_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| BHE40_HUMAN | 2.38 | n/a | 3.00 | -6.24 | Concordant | |||
| ITF2_HUMAN | 2.54 | -1.75 | 2.00 | -4.21 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood