rs7012106 chr8:143733442 C>G
- Sequence
ccggatcccgggccccttccccct[C/G]ggctcttttcgggccggcgtcgtg
- ASB in cell types
- K562 (myelogenous leukemia) ID00014 (lymphoblastoid cell, DiGeorge syndrome) Kelly (neuroblastoma) HeLa (cervical adenocarcinoma)
- ASB for transcription factors
- ZN148_HUMAN MGAP_HUMAN BRD2_HUMAN ESR1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZN148_HUMAN | 3.30 | n/a | 2.00 | -1.37 | Weak Concordant | |||
| MGAP_HUMAN | 2.94 | -5.17 | 2.00 | n/a | No Hit | |||
| BRD2_HUMAN | 0.03 | 1.14 | 1.33 | n/a | n/a | |||
| ESR1_HUMAN | 2.19 | 1.25 | 1.80 | n/a | No Hit | |||
| KDM2B_HUMAN | -0.93 | 1.44 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Lung, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid