rs17628 chr19:39435869 A>C
- Sequence
caccttgcgtccgaagacctgcac[A/C]gactgcagcgggcccttggacggc
- ASB in cell types
- K562 (myelogenous leukemia) WA09 (embryonic stem cells) GM12878 (female B-cells lymphoblastoid cell line) HCT-116 (colon carcinoma)
- ASB for transcription factors
- GABPA_HUMAN ILF3_HUMAN TP53B_HUMAN NELFE_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| GABPA_HUMAN | 1.92 | -0.37 | 1.76 | n/a | No Hit | |||
| ILF3_HUMAN | 3.76 | n/a | 2.00 | n/a | n/a | |||
| TP53B_HUMAN | 2.10 | -1.10 | 1.00 | n/a | n/a | |||
| NELFE_HUMAN | 3.08 | -5.59 | 2.00 | n/a | n/a | |||
| HEY1_HUMAN | 2.50 | -2.08 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood