rs7961547 chr12:120116920 T>C
- Sequence
cagcctgagccggccgcgcccggg[T/C]cgcgcacgcgccctgacggagtcc
- ASB in cell types
- K562 (myelogenous leukemia) U2OS (osteosarcoma) HeLa S3 (cervical adenocarcinoma)
- ASB for transcription factors
- NRF1_HUMAN ZN639_HUMAN MGAP_HUMAN SPT5H_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 | |
|---|---|---|---|---|---|---|---|---|
| NRF1_HUMAN | 1.39 | 0.23 | 1.82 | 0.45 | Weak Discordant | |||
| ZN639_HUMAN | 0.58 | n/a | 2.00 | n/a | n/a | |||
| MGAP_HUMAN | 2.49 | n/a | 2.00 | n/a | n/a | |||
| SPT5H_HUMAN | 2.52 | n/a | 2.00 | n/a | n/a | |||
| ATF1_HUMAN | 1.95 | n/a | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood