rs12617169 chr2:12167684 C>T
- Sequence
aggccgtctagcaccgtctcctga[C/T]gacctcagagggctgccccagggg
- ASB in cell types
- HUES64 (embryonic stem cells) GM02630 (Fanconi anemi) WA09 (embryonic stem cells) tibial nerve
- ASB for transcription factors
- RAD21_HUMAN STAG1_HUMAN CTCF_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| RAD21_HUMAN | 1.82 | -0.00 | 1.67 | n/a | n/a | |||
| STAG1_HUMAN | 1.54 | 0.17 | 1.06 | n/a | n/a | |||
| CTCF_HUMAN | 1.33 | 0.50 | 1.47 | -0.45 | Weak Concordant |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (geographic atrophy), birth weight, eye color, total cholesterol