rs4760388 chr12:92408302 T>C

Sequence
atctgctggctgaaaggggaatac[T/C]ttggttatctagaagaaggaagag
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) pancreas neural progenitors upper lobe of left lung
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN IKZF1_HUMAN SMC3_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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
CTCF_HUMAN 1.66 0.49 5.3·10-151.00 1.52 n/a No Hit
RAD21_HUMAN 0.87 0.39 1.7·10-31.00 1.40 n/a n/a
IKZF1_HUMAN 1.93 0.38 0.021.00 1.33 n/a n/a
SMC3_HUMAN 1.98 0.72 0.051.00 1.12 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP acute lung injury following major trauma,  advanced age-related macular degeneration (choroidal neovascularization) vs. no amd,  microalbuminuria
GTEx eQTL Cells_EBV-transformed_lymphocytes,  Esophagus_Mucosa,  Heart_Atrial_Appendage,  Small_Intestine_Terminal_Ileum,  Spleen

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