rs623853 chr12:69360050 G>A
- Sequence
cagtgcccggaccgcccctcttcc[G/A]gggtggctctcccgcctcggttcc
- ASB in cell types
- HepG2 (hepatoblastoma) HEK293 (embryonic kidney) CTV-1 (Adult T acute lymphoblastic leukemia) SEM (childhood B acute lymphoblastic leukemia)
- ASB for transcription factors
- ETV5_HUMAN GABP1_HUMAN LIN9_HUMAN ELF1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| ETV5_HUMAN | 3.34 | -5.42 | 1.50 | -4.31 | Concordant | |||
| GABP1_HUMAN | 3.75 | -2.35 | 1.67 | n/a | n/a | |||
| LIN9_HUMAN | 2.06 | -1.66 | 1.00 | n/a | n/a | |||
| ELF1_HUMAN | 2.18 | 0.03 | 1.78 | -5.93 | Concordant | |||
| RFOX2_HUMAN | 1.91 | -2.96 | 1.62 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, 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