rs823114 chr1:205750404 G>A

Sequence
agtcaagatgctctgagagcgcac[G/A]gccgcaaaacaaaaatggtcgctg
ASB in cell types
HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) liver A549 (lung carcinoma)
ASB for transcription factors
CREB1_HUMAN JUN_HUMAN ZSCA2_HUMAN FOXK2_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (G) 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
CREB1_HUMAN 1.55 -0.36 1.5·10-51.00 1.62 n/a No Hit
JUN_HUMAN 1.85 -0.18 3.3·10-31.00 2.00 n/a No Hit
ZSCA2_HUMAN 1.76 -1.44 6.0·10-31.00 1.50 n/a n/a
FOXK2_HUMAN -0.13 1.81 1.008.6·10-3 1.17 n/a n/a
GCR_HUMAN 1.18 0.65 0.021.00 1.08 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI alcohol consumption (drinks per week),  alcohol consumption (drinks per week) (mtag),  body mass index,  hdl cholesterol,  parkinsons disease
GRASP acute interstitial lung disease in gefitinib-treated non-small cell lung cancer,  age at menarche,  alzheimers disease,  body mass index (bmi),  hdl cholesterol,  height,  obesity with early age of onset (age >2),  parkinsons disease,  parkinsons disease (pd),  sporadic creutzfeldt-jakob disease
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  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,  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,  Heart_Left_Ventricle,  Liver,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Uterus,  Vagina,  Whole_Blood

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