rs6604980 chr1:1659065 C>G
- Sequence
cctccggcccagaactcgagacaa[C/G]gacaggggctcgctctgtgcggca
- ASB in cell types
- HepG2 (hepatoblastoma) tibial nerve adult erythroblasts thyroid gland
- ASB for transcription factors
- CTCF_HUMAN ERR1_HUMAN CREB1_HUMAN GABPA_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.61 | 2.06 | 1.29 | n/a | No Hit | |||
| ERR1_HUMAN | n/a | 2.98 | 2.00 | 4.12 | Concordant | |||
| CREB1_HUMAN | -0.20 | 1.64 | 1.56 | n/a | No Hit | |||
| GABPA_HUMAN | -0.15 | 1.50 | 1.44 | n/a | No Hit | |||
| RFOX2_HUMAN | 2.90 | -3.16 | 1.17 | 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_Hypothalamus, Brain_Putamen_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