rs174865 chr19:40444526 A>C
- Sequence
caactggcagggggcggggcagcg[A/C]ctccggggtggagggcggccggtc
- ASB in cell types
- K562 (myelogenous leukemia) tibial nerve SK-BR-3 (breast adenocarcinoma) foreskin keratinocyte
- ASB for transcription factors
- CTCF_HUMAN EGR1_HUMAN NRF1_HUMAN AP2C_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | 0.12 | 0.82 | 1.49 | n/a | No Hit | |||
| EGR1_HUMAN | -0.21 | 1.93 | 2.00 | -1.49 | Weak Discordant | |||
| NRF1_HUMAN | -2.06 | 1.87 | 2.00 | 3.59 | Concordant | |||
| AP2C_HUMAN | n/a | 2.13 | 2.50 | n/a | No Hit | |||
| SMCA4_HUMAN | -1.24 | 1.62 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood