rs62223585 chr21:37073157 T>G
- Sequence
agccagcgagcgcgggggcgggcg[T/G]gatcccgcggctcgcgacggcgaa
- ASB in cell types
- T47D (invasive ductal carcinoma) GM12878 (female B-cells lymphoblastoid cell line) CD14+ monocytes breast tumor
- ASB for transcription factors
- STAT1_HUMAN HIF3A_HUMAN HIF1A_HUMAN ANDR_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| STAT1_HUMAN | 3.50 | n/a | 2.00 | n/a | No Hit | |||
| HIF3A_HUMAN | 3.00 | n/a | 2.00 | -4.84 | Concordant | |||
| HIF1A_HUMAN | 2.93 | -0.82 | 2.00 | -5.16 | Concordant | |||
| ANDR_HUMAN | 2.23 | -3.24 | 2.00 | n/a | No Hit | |||
| ESR1_HUMAN | 2.28 | n/a | 2.00 | -3.02 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Frontal_Cortex_BA9, 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, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood