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Detailed information for vg1126520444:

Variant ID: vg1126520444 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 26520444
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACCACTAAAAAAATTCGCTCCCATGGGGAGTCGAACCCAGGACCTCGGTGCTACTGAGGCTCTTATAACCACTAGGCTACAGGCTCTTTCATGAAAAGTT[A/G]
GAAGATTATGTGTGTAGAAAAGTTTGATGTGATGAAAAAGTTGAAAGTTTGTTTAAAAAAAATTGGATCTAAACACGGTCGTAGTCATGTTTCATATACC

Reverse complement sequence

GGTATATGAAACATGACTACGACCGTGTTTAGATCCAATTTTTTTTAAACAAACTTTCAACTTTTTCATCACATCAAACTTTTCTACACACATAATCTTC[T/C]
AACTTTTCATGAAAGAGCCTGTAGCCTAGTGGTTATAAGAGCCTCAGTAGCACCGAGGTCCTGGGTTCGACTCCCCATGGGAGCGAATTTTTTTAGTGGT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 46.10% 21.20% 0.28% 32.40% NA
All Indica  2759 54.50% 23.60% 0.22% 21.67% NA
All Japonica  1512 36.40% 18.80% 0.33% 44.44% NA
Aus  269 28.60% 14.90% 0.37% 56.13% NA
Indica I  595 48.40% 8.60% 0.17% 42.86% NA
Indica II  465 75.90% 7.10% 0.22% 16.77% NA
Indica III  913 46.10% 41.30% 0.00% 12.60% NA
Indica Intermediate  786 56.20% 24.20% 0.51% 19.08% NA
Temperate Japonica  767 61.90% 18.10% 0.39% 19.56% NA
Tropical Japonica  504 5.40% 19.40% 0.40% 74.80% NA
Japonica Intermediate  241 19.90% 19.90% 0.00% 60.17% NA
VI/Aromatic  96 14.60% 8.30% 0.00% 77.08% NA
Intermediate  90 40.00% 18.90% 1.11% 40.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1126520444 A -> DEL N N silent_mutation Average:83.155; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1126520444 A -> G LOC_Os11g43914.1 upstream_gene_variant ; 2385.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1126520444 A -> G LOC_Os11g43920.1 downstream_gene_variant ; 1941.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1126520444 A -> G LOC_Os11g43934.2 downstream_gene_variant ; 4464.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1126520444 A -> G LOC_Os11g43920-LOC_Os11g43934 intergenic_region ; MODIFIER silent_mutation Average:83.155; most accessible tissue: Zhenshan97 panicle, score: 94.594 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)
vg1126520444 A G 0.0 0.0 0.0 -0.01 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1126520444 NA 1.38E-06 mr1380 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
vg1126520444 NA 1.28E-07 mr1561 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
vg1126520444 NA 1.69E-06 mr1908 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
vg1126520444 NA 4.19E-06 mr1937 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
vg1126520444 NA 7.42E-07 mr1125_2 Ind_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
vg1126520444 NA 5.44E-06 mr1133_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