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Detailed information for vg0404311033:

Variant ID: vg0404311033 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 4311033
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGTATGTGCTATAGTACTCAGCAGGGACATCGAACAAGGAAAGAACGATAGGACTTATGGAACAGGCAGTGTTCGATAGGTTGATGCCACAGTGACGCAA[C/T]
AATGTTTTTTCTTTTTTAAAATTTATTTTATCACCTGTCGAACTGCCCCAGTTCGATAGGTACCCTGTCGAACCGCTGTTGTTCGATAGGTGCCCTGTCG

Reverse complement sequence

CGACAGGGCACCTATCGAACAACAGCGGTTCGACAGGGTACCTATCGAACTGGGGCAGTTCGACAGGTGATAAAATAAATTTTAAAAAAGAAAAAACATT[G/A]
TTGCGTCACTGTGGCATCAACCTATCGAACACTGCCTGTTCCATAAGTCCTATCGTTCTTTCCTTGTTCGATGTCCCTGCTGAGTACTATAGCACATACT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.20% 1.70% 1.10% 35.99% NA
All Indica  2759 69.20% 0.10% 0.91% 29.72% NA
All Japonica  1512 47.60% 4.70% 0.99% 46.76% NA
Aus  269 56.50% 0.00% 3.35% 40.15% NA
Indica I  595 95.50% 0.00% 0.50% 4.03% NA
Indica II  465 81.90% 0.20% 0.86% 16.99% NA
Indica III  913 44.40% 0.00% 1.42% 54.22% NA
Indica Intermediate  786 70.70% 0.40% 0.64% 28.24% NA
Temperate Japonica  767 67.80% 1.00% 0.52% 30.64% NA
Tropical Japonica  504 19.40% 2.80% 1.59% 76.19% NA
Japonica Intermediate  241 41.90% 20.30% 1.24% 36.51% NA
VI/Aromatic  96 53.10% 3.10% 1.04% 42.71% NA
Intermediate  90 68.90% 1.10% 2.22% 27.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0404311033 C -> DEL N N silent_mutation Average:72.85; most accessible tissue: Callus, score: 90.854 N N N N
vg0404311033 C -> T LOC_Os04g08070.1 upstream_gene_variant ; 585.0bp to feature; MODIFIER silent_mutation Average:72.85; most accessible tissue: Callus, score: 90.854 N N N N
vg0404311033 C -> T LOC_Os04g08070-LOC_Os04g08080 intergenic_region ; MODIFIER silent_mutation Average:72.85; most accessible tissue: Callus, score: 90.854 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0404311033 C T 0.01 0.0 0.0 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0404311033 NA 5.69E-07 mr1037 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0404311033 1.38E-06 9.00E-09 mr1037_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0404311033 NA 5.94E-06 mr1457_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0404311033 NA 1.33E-07 mr1458_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0404311033 7.48E-07 NA mr1798_2 All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0404311033 2.76E-08 4.18E-10 mr1798_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251