rs3746988 chr21:45556197 C>T
- Sequence
tggctgcagccaccccggggatga[C/T]cagcagaggtcctcacggcctgcg
- ASB in cell types
- K562 (myelogenous leukemia) Kelly (neuroblastoma) MDA-MB-157 (triple negative breast carcinoma) WA09 (embryonic stem cells)
- ASB for transcription factors
- CTCF_HUMAN E4F1_HUMAN RAD21_HUMAN ELF1_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 2.59 | -1.84 | 1.50 | -3.39 | Concordant | |||
| E4F1_HUMAN | 4.45 | -4.25 | 1.00 | n/a | No Hit | |||
| RAD21_HUMAN | 3.00 | -4.67 | 1.50 | n/a | n/a | |||
| ELF1_HUMAN | 4.32 | -3.84 | 1.25 | n/a | No Hit | |||
| NRF1_HUMAN | 3.32 | -4.34 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Nerve_Tibial, Pancreas, Pituitary, Whole_Blood