rs2374390 chr2:41932448 T>C

Sequence
cagtcatggaaacattccccagac[T/C]gacactaatcgggggcacatctgg
ASB in cell types
K562 (myelogenous leukemia) HKC8 (kidney proximal tubule cell line)
ASB for transcription factors
NFIC_HUMAN EPAS1_HUMAN MTG16_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
NFIC_HUMAN 1.18 n/a 2.1·10-31.00 2.00 n/a No Hit
EPAS1_HUMAN -1.66 2.18 1.000.02 1.00 n/a No Hit
MTG16_HUMAN 0.85 n/a 0.041.00 2.00 n/a n/a
Items per page:
1 – 3 of 3

Motif analysis

No data available

Genetic associations

GRASP abnormal involuntary movement scale,  major depressive disorder (broad definition),  major depressive disorder (broad definition) (females),  major depressive disorder (narrow definition),  major depressive disorder (narrow definition) (females),  major depressive disorder (narrow definition) (males),  microalbuminuria,  urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Brain_Spinal_cord_cervical_c-1,  Breast_Mammary_Tissue,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Skin_Not_Sun_Exposed_Suprapubic,  Testis

Download