rs2121117 chr5:180861239 G>A
- Sequence
gtactggctgtggcggcgccgcgg[G/A]aacccggccgccagcgggacaaaa
- ASB in cell types
- MDA-MB-231 (breast adenocarcinoma) GM12892 (female B-cells lymphoblastoid cell line) GM12878 (female B-cells lymphoblastoid cell line) Tet21N (neuroblastoma)
- ASB for transcription factors
- KMT2A_HUMAN CDN1B_HUMAN GABPA_HUMAN BRD2_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| KMT2A_HUMAN | 0.36 | 2.19 | 1.17 | -2.47 | Discordant | |||
| CDN1B_HUMAN | 0.28 | 1.42 | 2.00 | n/a | n/a | |||
| GABPA_HUMAN | 0.26 | 1.35 | 1.55 | 3.09 | Concordant | |||
| BRD2_HUMAN | 0.08 | 1.28 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Thyroid