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Detailed information for vg0420062824:

Variant ID: vg0420062824 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 20062824
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 340. )

Flanking Sequence (100 bp) in Reference Genome:


TGAACCGAGTCAATTTGTTACGTTAGCGAATTCATACTGCCGAAGGATCTTATTTAAACGGTTTTGCAAAGATCTGGGATGCATTATATATGGTATTCGG[G/C]
TTCAGCGACAATTCTGAAACTCGACGACAATAGGAGGGATGTAAAGTAGACTTTTACCCATTATGTGCAGCCTGTTTAGTTGTCGGAAGTCCAAACGGGA

Reverse complement sequence

TCCCGTTTGGACTTCCGACAACTAAACAGGCTGCACATAATGGGTAAAAGTCTACTTTACATCCCTCCTATTGTCGTCGAGTTTCAGAATTGTCGCTGAA[C/G]
CCGAATACCATATATAATGCATCCCAGATCTTTGCAAAACCGTTTAAATAAGATCCTTCGGCAGTATGAATTCGCTAACGTAACAAATTGACTCGGTTCA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 98.10% 1.80% 0.13% 0.00% NA
All Indica  2759 99.60% 0.40% 0.00% 0.00% NA
All Japonica  1512 94.80% 4.90% 0.33% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.10% 0.90% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 84.30% 14.70% 0.99% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 96.70% 2.20% 1.11% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0420062824 G -> C LOC_Os04g33130.1 downstream_gene_variant ; 4519.0bp to feature; MODIFIER silent_mutation Average:98.132; most accessible tissue: Zhenshan97 flower, score: 99.018 N N N N
vg0420062824 G -> C LOC_Os04g33150.1 downstream_gene_variant ; 2369.0bp to feature; MODIFIER silent_mutation Average:98.132; most accessible tissue: Zhenshan97 flower, score: 99.018 N N N N
vg0420062824 G -> C LOC_Os04g33160.1 downstream_gene_variant ; 4990.0bp to feature; MODIFIER silent_mutation Average:98.132; most accessible tissue: Zhenshan97 flower, score: 99.018 N N N N
vg0420062824 G -> C LOC_Os04g33140.1 intron_variant ; MODIFIER silent_mutation Average:98.132; most accessible tissue: Zhenshan97 flower, score: 99.018 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)
vg0420062824 G C 0.02 0.01 0.0 0.01 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0420062824 NA 4.33E-06 mr1083 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
vg0420062824 NA 4.28E-06 mr1226 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
vg0420062824 NA 2.00E-07 mr1925 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
vg0420062824 2.77E-09 2.77E-09 mr1076_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
vg0420062824 NA 5.20E-09 mr1082_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
vg0420062824 3.45E-06 4.91E-10 mr1083_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
vg0420062824 NA 4.72E-06 mr1104_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
vg0420062824 NA 5.51E-06 mr1107_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
vg0420062824 NA 2.22E-07 mr1226_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
vg0420062824 NA 2.24E-07 mr1408_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
vg0420062824 NA 2.57E-06 mr1498_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