rs2294942 chr1:19251698 G>A
- Sequence
gggagaaagcgcaggcggcggctt[G/A]gcagggagaggcaggctgcagtgc
- ASB in cell types
- HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) HEK293T (embryonic kidney) GM12878 (female B-cells)
- ASB for transcription factors
- ZN143_HUMAN KMT2B_HUMAN FOXK2_HUMAN SP3_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 | |
|---|---|---|---|---|---|---|---|---|
| ZN143_HUMAN | n/a | 1.28 | 2.50 | n/a | No Hit | |||
| KMT2B_HUMAN | -0.42 | 2.31 | 1.78 | n/a | n/a | |||
| FOXK2_HUMAN | 1.93 | 0.35 | 1.67 | n/a | n/a | |||
| SP3_HUMAN | n/a | 2.19 | 2.00 | -1.11 | Weak Discordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Hypothalamus, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood