rs655293 chr12:123043858 G>A
- Sequence
ctccctggctgtggctatcagcat[G/A]gcaacctcagttgggtggaaacgg
- ASB in cell types
- foreskin keratinocyte HEK293 (embryonic kidney)
- ASB for transcription factors
- CTCF_HUMAN ZIC2_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 | 0.65 | 1.02 | 1.52 | -0.11 | Weak Discordant | |||
| ZIC2_HUMAN | 2.06 | -1.64 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), asthma, college completion, diastolic blood pressure (dbp), height, hypertension (early onset hypertension), infant head circumference, rheumatoid arthritis, years of education
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Putamen_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, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Vagina, Whole_Blood