rs705704 chr12:56041628 G>A

Sequence
tcttcgtaatcctacacctaccta[G/A]tagaaggactgtcagagaaatgag
ASB in cell types
foreskin keratinocyte adrenal gland MS-1 (Small cell lung carcinoma) HEK293 (embryonic kidney)
ASB for transcription factors
CTCF_HUMAN STAG1_HUMAN

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
CTCF_HUMAN 1.28 0.88 1.7·10-111.00 1.34 n/a No Hit
STAG1_HUMAN 0.95 -0.23 1.3·10-51.00 1.06 n/a n/a
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Motif analysis

No data available

Genetic associations

EMBL-EBI nonsyndromic cleft lip with cleft palate
GRASP alopecia areata,  college completion,  fasting blood glucose,  parkinsons disease,  systolic blood pressure (sbp),  triglycerides,  type 1 diabetes,  years of education
Finemapping alopecia areata,  asthma,  vitiligo
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Amygdala,  Brain_Anterior_cingulate_cortex_BA24,  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,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Kidney_Cortex,  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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