rs688100 chr1:169999011 C>A

Sequence
ttcatctattcaaacacaggtctg[C/A]aaagaaagtaaagactctttggca
ASB in cell types
D341 Med (medulloblastoma)
ASB for transcription factors
OTX2_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
OTX2_HUMAN 0.21 1.38 1.000.05 2.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP asthma,  diastolic blood pressure (dbp),  hypertension (early onset hypertension),  ldl cholesterol,  premature ovarian failure,  tetrology of fallot,  total cholesterol,  triglycerides
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Cerebellum,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Liver,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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