rs7250650 chr19:19175180 A>T
- Sequence
ccaggactgcagacaatgaccgct[A/T]ggaggctgaacttcccgccaacgc
- ASB in cell types
- THP-1 (acute monocytic leukemia) GBM39 (Human brain tumor) GM02610 (Lymphoblastoid Cell Lines) HepG2 (hepatoblastoma)
- ASB for transcription factors
- CTCF_HUMAN KDM6A_HUMAN RAD21_HUMAN TBX21_HUMAN
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-log10 FDR of Ref (A) 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 | 1.59 | 0.45 | 1.44 | -3.16 | Concordant | |||
| KDM6A_HUMAN | 1.59 | n/a | 2.50 | n/a | n/a | |||
| RAD21_HUMAN | 1.16 | 1.11 | 1.24 | n/a | n/a | |||
| TBX21_HUMAN | 2.30 | -1.98 | 1.00 | n/a | No Hit | |||
| IRF4_HUMAN | 2.15 | 0.04 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Minor_Salivary_Gland, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid