rs226249 chr1:7961718 T>C
- Sequence
cgcgtgcgtgctggcgtgcgttca[T/C]tttcagcctggtgtggggtgagtg
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) fetal bone marrow-derived mononuclear cells HepG2 (hepatoblastoma) KB (cervical adenocarcinoma)
- ASB for transcription factors
- KMT2A_HUMAN NRF1_HUMAN CTCF_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 | |
|---|---|---|---|---|---|---|---|---|
| KMT2A_HUMAN | 2.56 | 0.39 | 1.33 | n/a | n/a | |||
| NRF1_HUMAN | 1.65 | 0.14 | 1.63 | n/a | No Hit | |||
| CTCF_HUMAN | 0.52 | 0.78 | 1.35 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cortex, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood