rs2394412 chr6:30814458 G>A
- Sequence
cacatgactgggtaatgagtcacc[G/A]gtagaagtcggcttgatggggctt
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) Th1-cells CD14+ monocytes
- ASB for transcription factors
- MNT_HUMAN TF65_HUMAN ATF3_HUMAN TIF1A_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| MNT_HUMAN | 2.77 | n/a | 3.00 | n/a | No Hit | |||
| TF65_HUMAN | 2.23 | -1.15 | 3.38 | n/a | No Hit | |||
| ATF3_HUMAN | 1.17 | n/a | 3.50 | -0.26 | Weak Concordant | |||
| TIF1A_HUMAN | 2.42 | n/a | 3.00 | n/a | n/a | |||
| KDM1A_HUMAN | 1.66 | n/a | 3.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, hdl cholesterol, height, hiv-1 control (viral load at set point), hypertension (early onset hypertension), ldl cholesterol change with statins, rheumatoid arthritis, schizophrenia, total cholesterol change with statins, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Frontal_Cortex_BA9, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood