rs510803 chr1:28233063 C>G
- Sequence
tcgcctcacgtgattcttacaggt[C/G]cgctcctctagccccgcctcccgt
- ASB in cell types
- HEK293 (embryonic kidney) keratinocytes MCF7 (Invasive ductal breast carcinoma) HEK293T (embryonic kidney)
- ASB for transcription factors
- ZEB2_HUMAN SNAI2_HUMAN SCRT2_HUMAN ZBT26_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 | |
|---|---|---|---|---|---|---|---|---|
| ZEB2_HUMAN | -2.79 | 2.59 | 1.56 | n/a | n/a | |||
| SNAI2_HUMAN | 2.88 | n/a | 1.50 | 4.38 | Discordant | |||
| SCRT2_HUMAN | n/a | 2.58 | 2.00 | n/a | n/a | |||
| ZBT26_HUMAN | n/a | 2.56 | 2.00 | n/a | n/a | |||
| FOXK2_HUMAN | 1.10 | -0.13 | 1.37 | 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_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, 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, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood