rs2391738 chr5:181173297 T>C
- Sequence
cccctgctgttcaacccccgtgcc[T/C]actgttgctgccacatcctctctc
- ASB in cell types
- GM02630 (Fanconi anemi) THP-1 (acute monocytic leukemia) MCF10AT1 (breast premetastatic epithelial cells) glioblastoma cells
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN RAD21_HUMAN
View in PheLiGe Color scale
-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 | 1.92 | 2.08 | 1.63 | 2.26 | Discordant | |||
| STAG1_HUMAN | 0.46 | 2.63 | 1.22 | n/a | n/a | |||
| RAD21_HUMAN | 1.74 | 0.03 | 1.08 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid