rs12596308 chr16:29679875 C>T
- Sequence
tgaaacggtgaaggtgggggtgtg[C/T]gcgtcatttgaaagatgtatagcc
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) MCF7 (Invasive ductal breast carcinoma)
- ASB for transcription factors
- MNT_HUMAN MTG8R_HUMAN MEF2B_HUMAN NCOR1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| MNT_HUMAN | 0.50 | 1.80 | 2.12 | n/a | n/a | |||
| MTG8R_HUMAN | -3.23 | 2.32 | 2.00 | n/a | n/a | |||
| MEF2B_HUMAN | -1.36 | 1.59 | 1.00 | n/a | No Hit | |||
| NCOR1_HUMAN | -0.83 | 1.61 | 2.00 | n/a | n/a | |||
| SMCA4_HUMAN | 0.02 | 1.97 | 2.00 | n/a | n/a |
Items per page:
1 – 5 of 6
Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), neuroblastoma (brain cancer), normoxic and mild-hypoxic adaptation in populations residing at low and moderate altitudes, schizophrenia, spine bone mineral density (bmd), urinary albumin-to-creatinine ratio
GTEx eQTL Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid