rs2130531 chr10:18658450 G>A
- Sequence
gtcaactggtttcaaggacattca[G/A]tttcgtttcatgccaggctgtgaa
- ASB in cell types
- CD14+ monocytes MM1.S (plasma cell myeloma) GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia)
- ASB for transcription factors
- STAT1_HUMAN IKZF1_HUMAN FOXK2_HUMAN ANDR_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 | |
|---|---|---|---|---|---|---|---|---|
| STAT1_HUMAN | 4.03 | n/a | 2.00 | -4.07 | Concordant | |||
| IKZF1_HUMAN | 3.17 | 0.87 | 1.75 | n/a | n/a | |||
| FOXK2_HUMAN | 2.75 | n/a | 1.50 | n/a | No Hit | |||
| ANDR_HUMAN | 2.48 | -1.70 | 2.00 | -4.19 | Concordant |
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Motif analysis
Genetic associations
GRASP aortic valve calcium, diastolic blood pressure (dbp), hip bone mineral density (bmd), spine bone mineral density (bmd)
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Whole_Blood