rs2149851 chr13:30371784 T>C
- Sequence
gtctcctggcagtttcttgggcca[T/C]gtgacataaccgccaggttatact
- ASB in cell types
- Jurkat (T-cells) MOLT3 (adult T acute lymphoblastic leukemia) GM12878 (female B-cells) HL-60 (acute myeloid leukemia)
- ASB for transcription factors
- MYB_HUMAN USF2_HUMAN BHE40_HUMAN SKI_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 | |
|---|---|---|---|---|---|---|---|---|
| MYB_HUMAN | 2.34 | -2.08 | 1.61 | n/a | No Hit | |||
| USF2_HUMAN | 2.48 | -2.80 | 1.50 | 3.12 | Discordant | |||
| BHE40_HUMAN | n/a | 0.65 | 1.33 | 5.10 | Concordant | |||
| SKI_HUMAN | 2.23 | -0.16 | 1.50 | n/a | n/a | |||
| IKZF1_HUMAN | 0.44 | -1.17 | 1.33 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP fasting blood glucose, homa-b, irritible bowel syndrome, microalbuminuria, neuroticism, tardive dyskinesia, triglycerides change with statins, urinary albumin-to-creatinine ratio
GTEx eQTL Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Colon_Transverse, Heart_Left_Ventricle, Nerve_Tibial, Small_Intestine_Terminal_Ileum, Thyroid