rs2732288 chr8:33513239 G>A
- Sequence
ataaagatccaggctcgggaaaat[G/A]acggagaggtggaactatagagaa
- ASB in cell types
- GM12892 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) GM02630 (Fanconi anemi) WA01 (H1, human embryonic stem cells)
- ASB for transcription factors
- CREB1_HUMAN STAG1_HUMAN CTCF_HUMAN ELF1_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| CREB1_HUMAN | 3.05 | -0.91 | 1.20 | -3.40 | Concordant | |||
| STAG1_HUMAN | 4.01 | -4.52 | 1.08 | n/a | n/a | |||
| CTCF_HUMAN | 0.40 | 1.40 | 1.10 | n/a | No Hit | |||
| ELF1_HUMAN | 1.02 | 0.54 | 1.25 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, 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, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood