rs434350 chr6:5135985 G>A
- Sequence
tgtagggggactctagggaccgcc[G/A]taagtggaatcatacagcatttgt
- ASB in cell types
- foreskin keratinocyte liver MCF7 (Invasive ductal breast carcinoma) K562 (myelogenous leukemia)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN RFX1_HUMAN
View in PheLiGe Color scale
-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 | 1.53 | 0.33 | 1.68 | 0.13 | Weak Discordant | |||
| RAD21_HUMAN | 2.48 | -3.00 | 1.33 | n/a | n/a | |||
| RFX1_HUMAN | 1.75 | -1.20 | 2.17 | -0.85 | Weak Concordant |
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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