rs912104 chr20:1299700 G>T
- Sequence
cccagagccggcaggtgttcacgt[G/T]tgtgctcccatgtgcccccggagg
- ASB in cell types
- keratinocytes GM19239 (male B-cells lymphoblastoid cell line) GM12878 (female B-cells lymphoblastoid cell line) GM19240 (B cells Lymphoblastoid Cell Lines)
- ASB for transcription factors
- SNAI2_HUMAN CTCF_HUMAN STAG1_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| SNAI2_HUMAN | 3.99 | -4.33 | 1.00 | n/a | No Hit | |||
| CTCF_HUMAN | 0.47 | 1.27 | 1.25 | 0.26 | Weak Concordant | |||
| STAG1_HUMAN | -0.17 | 1.94 | 1.11 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Muscle_Skeletal, Pituitary, Thyroid