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Detailed information for vg0307479900:

Variant ID: vg0307479900 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 7479900
Reference Allele: AAlternative Allele: C
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAGGCTAGAAAATATGTCGCGCATGAGGTATAGTCAGTCCTAAAATAAAAACCCGAAAATCATCTCGCGCGAACTCCGCGCCGCCGCGCGCCACAGGCAC[A/C]
ACCGCCAAAAGCCTCCGCGGCTCGCCTCGCACCACACACGGAGTCACACGGCTCATGCCGGGCTGGCACGGGAGGAGGCCAGGAGGGGGAGGAGCGGCGT

Reverse complement sequence

ACGCCGCTCCTCCCCCTCCTGGCCTCCTCCCGTGCCAGCCCGGCATGAGCCGTGTGACTCCGTGTGTGGTGCGAGGCGAGCCGCGGAGGCTTTTGGCGGT[T/G]
GTGCCTGTGGCGCGCGGCGGCGCGGAGTTCGCGCGAGATGATTTTCGGGTTTTTATTTTAGGACTGACTATACCTCATGCGCGACATATTTTCTAGCCTT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 88.60% 9.50% 1.90% 0.00% NA
All Indica  2759 100.00% 0.00% 0.00% 0.00% NA
All Japonica  1512 64.90% 29.20% 5.89% 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  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 100.00% 0.00% 0.00% 0.00% NA
Temperate Japonica  767 38.20% 52.50% 9.26% 0.00% NA
Tropical Japonica  504 97.20% 1.20% 1.59% 0.00% NA
Japonica Intermediate  241 82.60% 13.30% 4.15% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 91.10% 7.80% 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
vg0307479900 A -> C LOC_Os03g13810.1 upstream_gene_variant ; 477.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13810.3 upstream_gene_variant ; 477.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13810.2 upstream_gene_variant ; 479.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13790.1 downstream_gene_variant ; 4331.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13800.1 downstream_gene_variant ; 1664.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13820.1 downstream_gene_variant ; 2183.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13790.2 downstream_gene_variant ; 4331.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13820.2 downstream_gene_variant ; 2183.0bp to feature; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 N N N N
vg0307479900 A -> C LOC_Os03g13800-LOC_Os03g13810 intergenic_region ; MODIFIER silent_mutation Average:99.614; most accessible tissue: Zhenshan97 flag leaf, score: 99.971 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)
vg0307479900 A C 0.0 -0.01 -0.01 0.0 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0307479900 NA 1.57E-06 mr1010 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
vg0307479900 NA 3.48E-06 mr1011 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
vg0307479900 2.84E-06 2.84E-06 mr1011 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
vg0307479900 3.37E-07 5.37E-22 mr1163 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
vg0307479900 NA 1.59E-09 mr1163 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
vg0307479900 NA 1.90E-20 mr1010_2 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
vg0307479900 NA 9.55E-10 mr1010_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
vg0307479900 NA 4.08E-12 mr1011_2 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
vg0307479900 NA 5.79E-08 mr1011_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
vg0307479900 NA 1.08E-06 mr1013_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
vg0307479900 NA 2.82E-08 mr1031_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
vg0307479900 NA 6.11E-06 mr1330_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