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Detailed information for vg0409228132:

Variant ID: vg0409228132 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 9228132
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCGTCCGATCGGCATTGGCCGATCTGGGCCGTCCACGTGGTGGACGCGCACCCGAGGCACGTGTGGACCATGTCCACCGTGCGCCCTCCCCCTTTGACT[C/T]
GCTGACGTGTGGGGCCCGCGTGTCGGCGCCGGCCGCCCCTTGCTTGTAAAAATAAATAATAATTGCGTCATAATTCGATGATAATTCTAGAAATTCATTT

Reverse complement sequence

AAATGAATTTCTAGAATTATCATCGAATTATGACGCAATTATTATTTATTTTTACAAGCAAGGGGCGGCCGGCGCCGACACGCGGGCCCCACACGTCAGC[G/A]
AGTCAAAGGGGGAGGGCGCACGGTGGACATGGTCCACACGTGCCTCGGGTGCGCGTCCACCACGTGGACGGCCCAGATCGGCCAATGCCGATCGGACGGC

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 28.50% 1.70% 7.85% 62.02% NA
All Indica  2759 16.30% 0.00% 5.07% 78.58% NA
All Japonica  1512 53.60% 5.10% 8.86% 32.41% NA
Aus  269 19.70% 0.00% 18.22% 62.08% NA
Indica I  595 13.10% 0.00% 5.71% 81.18% NA
Indica II  465 18.30% 0.00% 2.80% 78.92% NA
Indica III  913 17.00% 0.00% 6.02% 77.00% NA
Indica Intermediate  786 16.90% 0.00% 4.83% 78.24% NA
Temperate Japonica  767 82.40% 8.70% 5.22% 3.65% NA
Tropical Japonica  504 4.00% 1.40% 16.07% 78.57% NA
Japonica Intermediate  241 66.00% 1.20% 5.39% 27.39% NA
VI/Aromatic  96 6.20% 0.00% 37.50% 56.25% NA
Intermediate  90 26.70% 2.20% 13.33% 57.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0409228132 C -> DEL N N silent_mutation Average:38.73; most accessible tissue: Zhenshan97 root, score: 75.275 N N N N
vg0409228132 C -> T LOC_Os04g16850.1 upstream_gene_variant ; 467.0bp to feature; MODIFIER silent_mutation Average:38.73; most accessible tissue: Zhenshan97 root, score: 75.275 N N N N
vg0409228132 C -> T LOC_Os04g16860.1 upstream_gene_variant ; 2272.0bp to feature; MODIFIER silent_mutation Average:38.73; most accessible tissue: Zhenshan97 root, score: 75.275 N N N N
vg0409228132 C -> T LOC_Os04g16850-LOC_Os04g16860 intergenic_region ; MODIFIER silent_mutation Average:38.73; most accessible tissue: Zhenshan97 root, score: 75.275 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)
vg0409228132 C T 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0409228132 1.62E-06 6.39E-07 mr1035 Jap_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
vg0409228132 4.65E-08 2.53E-13 mr1062 Jap_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
vg0409228132 1.34E-07 1.34E-07 mr1525 Jap_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
vg0409228132 7.13E-06 2.57E-06 mr1626 Jap_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
vg0409228132 1.14E-09 6.01E-13 mr1062_2 Jap_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
vg0409228132 4.56E-06 4.56E-06 mr1525_2 Jap_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
vg0409228132 4.23E-07 5.25E-10 mr1631_2 Jap_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