rs6501604 chr17:73191639 T>C
- Sequence
attagagactgcaaactgcaggcc[T/C]gccaacagagggtgctctgtggga
- ASB in cell types
- T47D (invasive ductal carcinoma) D54 (H54, Human glioblastoma) THP-1 (acute monocytic leukemia) AG04450 (fibroblasts)
- ASB for transcription factors
- CTCF_HUMAN KDM6A_HUMAN STAG1_HUMAN ZN654_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) 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 | 1.53 | 0.48 | 1.34 | 0.07 | Weak Discordant | |||
| KDM6A_HUMAN | 2.18 | 0.09 | 1.75 | n/a | n/a | |||
| STAG1_HUMAN | 0.03 | 0.58 | 1.00 | n/a | n/a | |||
| ZN654_HUMAN | n/a | 2.03 | 2.00 | 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_Cerebellar_Hemisphere, Brain_Hypothalamus, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, 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, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood