rs2113417 chr2:95334108 G>A

Sequence
ttcacagatcaccagcgaggatgt[G/A]acttgagaacactttgcgtcagca
ASB in cell types
HKC8 (kidney proximal tubule cell line) renal cortex 22RV1 (prostate carcinoma)
ASB for transcription factors
SIX2_HUMAN EPAS1_HUMAN E2F8_HUMAN ANDR_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
SIX2_HUMAN n/a 2.29 1.001.7·10-3 1.25 5.92 Concordant
EPAS1_HUMAN 1.74 1.40 0.011.00 1.00 -4.61 Concordant
E2F8_HUMAN 1.68 -0.09 0.021.00 1.00 n/a No Hit
ANDR_HUMAN 0.39 2.15 0.780.02 1.92 n/a No Hit
Items per page:
1 – 4 of 4

Motif analysis

SIX2_HUMAN Concordant
SIX2_HUMAN pic

Genetic associations

GRASP asthma,  hdl cholesterol change with statins,  height (pygmy height),  schizophrenia
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Spleen,  Testis,  Thyroid,  Whole_Blood

Download