rs434350 chr6:5135985 G>A
- Sequence
tgtagggggactctagggaccgcc[G/A]taagtggaatcatacagcatttgt
- ASB in cell types
- foreskin keratinocyte ID00014 (lymphoblastoid cell, DiGeorge syndrome) T47D (invasive ductal carcinoma) MCF7L-P(immortalized breast epithelial cell line)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN RAD21_HUMAN RFX1_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.70 | 0.59 | 1.54 | 0.05 | Weak Discordant | |||
| STAG1_HUMAN | 1.73 | 0.35 | 1.44 | n/a | n/a | |||
| RAD21_HUMAN | 2.57 | -4.57 | 1.50 | n/a | n/a | |||
| RFX1_HUMAN | 2.33 | -0.56 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic