rs2353678 chr19:39440419 G>C
- Sequence
gtagatttgcatatttgccaactt[G/C]cggcagatggcagtaaagtatctt
- ASB in cell types
- A549 (lung carcinoma) K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN SMC3_HUMAN REST_HUMAN
View in PheLiGe Color scale
-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 | 0.12 | 2.18 | 1.78 | 4.05 | Concordant | |||
| RAD21_HUMAN | -0.71 | 2.41 | 1.71 | n/a | n/a | |||
| SMC3_HUMAN | 0.00 | 1.92 | 1.94 | n/a | n/a | |||
| REST_HUMAN | n/a | 3.13 | 2.00 | n/a | No Hit | |||
| IKZF2_HUMAN | -1.82 | 2.25 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, aortic valve calcium, kawasaki disease, ldl cholesterol change with statins, lp-pla2 activity, lp-pla2 mass, total cholesterol change with statins
GTEx eQTL Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood