rs12691507 chr1:202165846 G>A
- Sequence
tttccaggcccccatccaggggcc[G/A]ggtgggcggctctgaggtttgggg
- ASB in cell types
- K562 (myelogenous leukemia) CTV-1 (Adult T acute lymphoblastic leukemia) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- SMCA4_HUMAN NFIC_HUMAN RFX1_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 | |
|---|---|---|---|---|---|---|---|---|
| SMCA4_HUMAN | 1.54 | 0.75 | 1.29 | n/a | n/a | |||
| NFIC_HUMAN | n/a | 3.08 | 3.00 | 4.21 | Concordant | |||
| RFX1_HUMAN | n/a | 2.62 | 3.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Cells_Cultured_fibroblasts, Colon_Transverse, Lung, Ovary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Whole_Blood