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Detailed information for vg1127413102:

Variant ID: vg1127413102 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 27413102
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGTAGTCCTAAAATGAATAAGCTAAAGCCAAAATTTAAATTTTAAAATTTAATTTTGAAGTTGGATTTAAGGTATTTTTAACATAATTTTTTTAGCTTTG[G/C]
CTTTTAAGTTGCTAAGATTATTTATACATATAAGTTTTAGATGCAAAATTACCTTTTTTTTTATCTCTAATAAACTGTCACTCCTGTCTCAATTCTCCAC

Reverse complement sequence

GTGGAGAATTGAGACAGGAGTGACAGTTTATTAGAGATAAAAAAAAAGGTAATTTTGCATCTAAAACTTATATGTATAAATAATCTTAGCAACTTAAAAG[C/G]
CAAAGCTAAAAAAATTATGTTAAAAATACCTTAAATCCAACTTCAAAATTAAATTTTAAAATTTAAATTTTGGCTTTAGCTTATTCATTTTAGGACTACC

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 85.70% 1.50% 6.81% 5.99% NA
All Indica  2759 94.50% 0.30% 3.04% 2.21% NA
All Japonica  1512 70.60% 3.60% 13.82% 12.04% NA
Aus  269 77.00% 2.60% 7.06% 13.38% NA
Indica I  595 85.50% 0.00% 9.24% 5.21% NA
Indica II  465 97.40% 1.30% 0.65% 0.65% NA
Indica III  913 98.50% 0.00% 0.33% 1.20% NA
Indica Intermediate  786 94.90% 0.10% 2.93% 2.04% NA
Temperate Japonica  767 70.80% 1.40% 14.60% 13.17% NA
Tropical Japonica  504 70.20% 5.00% 14.29% 10.52% NA
Japonica Intermediate  241 70.50% 7.50% 10.37% 11.62% NA
VI/Aromatic  96 94.80% 0.00% 4.17% 1.04% NA
Intermediate  90 87.80% 2.20% 6.67% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1127413102 G -> DEL N N silent_mutation Average:58.498; most accessible tissue: Zhenshan97 panicle, score: 80.486 N N N N
vg1127413102 G -> C LOC_Os11g45320.1 upstream_gene_variant ; 3637.0bp to feature; MODIFIER silent_mutation Average:58.498; most accessible tissue: Zhenshan97 panicle, score: 80.486 N N N N
vg1127413102 G -> C LOC_Os11g45290.1 downstream_gene_variant ; 3167.0bp to feature; MODIFIER silent_mutation Average:58.498; most accessible tissue: Zhenshan97 panicle, score: 80.486 N N N N
vg1127413102 G -> C LOC_Os11g45290.2 downstream_gene_variant ; 3109.0bp to feature; MODIFIER silent_mutation Average:58.498; most accessible tissue: Zhenshan97 panicle, score: 80.486 N N N N
vg1127413102 G -> C LOC_Os11g45295.1 intron_variant ; MODIFIER silent_mutation Average:58.498; most accessible tissue: Zhenshan97 panicle, score: 80.486 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)
vg1127413102 G C -0.01 0.0 0.0 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1127413102 6.36E-06 2.79E-06 mr1088_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
vg1127413102 3.00E-06 2.23E-07 mr1224_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
vg1127413102 1.45E-06 7.03E-08 mr1404_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
vg1127413102 NA 5.24E-07 mr1620_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