rs111653420 chr1:145281193 A>C

Sequence
cgaagcttatccattgcgttccgg[A/C]tgtgctgacccctgcgatttcccc
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) HeLa (cervical adenocarcinoma) primary B-CLL cells HeLa-LTR-Luciferase cells
ASB for transcription factors
ELL2_HUMAN HTF4_HUMAN AFF4_HUMAN BRD4_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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
ELL2_HUMAN 1.72 -3.70 7.7·10-61.00 2.00 n/a n/a
HTF4_HUMAN 3.49 -3.63 2.8·10-51.00 1.00 n/a No Hit
AFF4_HUMAN 1.73 -0.15 1.8·10-31.00 2.00 n/a n/a
BRD4_HUMAN 2.01 0.08 2.5·10-30.81 2.00 n/a n/a
ANM1_HUMAN 2.94 -5.27 7.2·10-31.00 2.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cortex,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Thyroid,  Whole_Blood

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