rs13253293 chr8:143844082 G>C
- Sequence
ggacatagtgaggagtaaccagaa[G/C]acaagagtgcgagccctctgttat
- ASB in cell types
- KMS-11 (Plasma cell myeloma) GM19193 (female B-cells Lymphoblastoid Cell Lines) GM12892 (female B-cells lymphoblastoid cell line) HeLa S3 (cervical adenocarcinoma)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN RAD21_HUMAN SMC1A_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (C) 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 | 1.99 | 0.31 | 1.43 | 3.37 | Discordant | |||
| STAG1_HUMAN | 2.18 | -0.43 | 1.17 | n/a | n/a | |||
| RAD21_HUMAN | 2.67 | -4.62 | 1.50 | n/a | n/a | |||
| SMC1A_HUMAN | 1.93 | -1.37 | 1.67 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Esophagus_Mucosa, Nerve_Tibial, Pancreas, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid