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rs309137 chr2:136008381 T>C

Sequence
acttctgctgttgccaccaaccct[T/C]gcgtttccctttgtcacttccccc
ASB in cell types
CD14+ monocytes macrophages SKH1 (chronic myelogenous leukemia, BCR-ABL1 positive)
ASB for transcription factors
STAT1_HUMAN EP300_HUMAN CTCF_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) ASB
color scale alt
-log10 FDR of Alt (C) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
STAT1_HUMAN n/a 4.12 1.002.8·10-7 2.00 n/a No Hit
EP300_HUMAN -1.98 2.33 1.000.01 1.50 n/a n/a
CTCF_HUMAN 1.15 0.32 0.021.00 1.27 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration advanced age-related macular degeneration (choroidal neovascularization) vs. no amd arthritis including non-rheumatoid body mass index (bmi) celiac disease cystatin c in serum hdl cholesterol late onset alzheimers disease ldl cholesterol longstanding arthritis obesity with early age of onset (age >2) pagets disease of bone panic disorder parkinsons disease partial epilepsy premature ovarian failure rheumatoid arthritis serum creatinine sporadic creutzfeldt-jakob disease total cholesterol waist circumference
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Coronary Artery_Tibial Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Nucleus_accumbens_basal_ganglia 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 Lung Nerve_Tibial Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Testis Thyroid Whole_Blood

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