rs689116 chr2:218569165 C>A
- Sequence
gccggcccctatttccttgccgga[C/A]gcctctcgcggccttcagcgcgac
- ASB in cell types
- HUVEC-C (HUVEC, umbilical vein endothelial cells) MDA-MB-231 (breast adenocarcinoma) CRC107 (colorectal cancer metastatic stem cells) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- SUH_HUMAN BRD2_HUMAN SP2_HUMAN RFOX2_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| SUH_HUMAN | -5.21 | 3.14 | 2.00 | n/a | No Hit | |||
| BRD2_HUMAN | 0.27 | 1.21 | 1.00 | n/a | n/a | |||
| SP2_HUMAN | -1.83 | 2.22 | 1.00 | -2.33 | Discordant | |||
| RFOX2_HUMAN | 1.98 | -1.26 | 2.00 | n/a | n/a | |||
| TF65_HUMAN | 0.63 | 2.67 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood