rs4930365 chr11:66408684 G>T
- Sequence
ttggtttgccgcaggctttgggga[G/T]cagagggctgaccgggggagagcg
- ASB in cell types
- A549 (lung carcinoma) MCF7 (Invasive ductal breast carcinoma) medulloblastoma Ishikawa (endometrial adenocarcinoma)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN SMC3_HUMAN KDM5B_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (T) 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 | 1.66 | 0.11 | 1.57 | -2.30 | Concordant | |||
| RAD21_HUMAN | 2.09 | -0.14 | 1.81 | n/a | n/a | |||
| SMC3_HUMAN | 1.94 | -0.79 | 1.96 | n/a | n/a | |||
| KDM5B_HUMAN | 1.72 | -1.65 | 1.33 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, 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, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood