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Detailed information for vg0131382321:

Variant ID: vg0131382321 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 31382321
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 107. )

Flanking Sequence (100 bp) in Reference Genome:


GGGCGCGACAGGATACCCCGAGGCCCCTAGGCGGTTACGGGCGCCTTTTGGCTGCTTATTATCTGCGCGCCCGGGGCGGGGAGGGGGGCCAGGCCGCGCA[A/G]
CCACGTGGCTGGGGGAAAGGACCCTTTCCCATTAGTGTGGTACCCCCGGGCCCATATCATCGACAAAATTTCTCTCTATTTTTTACCAAATATAATAAAA

Reverse complement sequence

TTTTATTATATTTGGTAAAAAATAGAGAGAAATTTTGTCGATGATATGGGCCCGGGGGTACCACACTAATGGGAAAGGGTCCTTTCCCCCAGCCACGTGG[T/C]
TGCGCGGCCTGGCCCCCCTCCCCGCCCCGGGCGCGCAGATAATAAGCAGCCAAAAGGCGCCCGTAACCGCCTAGGGGCCTCGGGGTATCCTGTCGCGCCC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 69.50% 30.00% 0.44% 0.00% NA
All Indica  2759 98.00% 2.00% 0.00% 0.00% NA
All Japonica  1512 18.50% 80.20% 1.32% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 97.00% 3.00% 0.00% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 99.70% 0.30% 0.00% 0.00% NA
Indica Intermediate  786 95.90% 4.10% 0.00% 0.00% NA
Temperate Japonica  767 8.10% 89.40% 2.48% 0.00% NA
Tropical Japonica  504 18.30% 81.50% 0.20% 0.00% NA
Japonica Intermediate  241 51.90% 48.10% 0.00% 0.00% NA
VI/Aromatic  96 4.20% 95.80% 0.00% 0.00% NA
Intermediate  90 36.70% 62.20% 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
vg0131382321 A -> G LOC_Os01g54560.1 upstream_gene_variant ; 4776.0bp to feature; MODIFIER silent_mutation Average:80.932; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0131382321 A -> G LOC_Os01g54560.2 upstream_gene_variant ; 4776.0bp to feature; MODIFIER silent_mutation Average:80.932; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0131382321 A -> G LOC_Os01g54560.3 upstream_gene_variant ; 4776.0bp to feature; MODIFIER silent_mutation Average:80.932; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0131382321 A -> G LOC_Os01g54560-LOC_Os01g54570 intergenic_region ; MODIFIER silent_mutation Average:80.932; most accessible tissue: Zhenshan97 panicle, score: 90.061 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)
vg0131382321 A G 0.0 0.0 0.0 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0131382321 NA 4.96E-21 mr1003 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
vg0131382321 NA 4.40E-15 mr1118 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
vg0131382321 NA 1.07E-21 mr1163 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
vg0131382321 NA 4.24E-16 mr1239 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
vg0131382321 NA 8.13E-21 mr1242 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
vg0131382321 NA 8.85E-12 mr1940 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
vg0131382321 NA 3.07E-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
vg0131382321 NA 5.74E-17 mr1114_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
vg0131382321 NA 2.34E-15 mr1118_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
vg0131382321 NA 3.18E-17 mr1240_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
vg0131382321 NA 2.57E-25 mr1242_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
vg0131382321 NA 6.38E-08 mr1350_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
vg0131382321 NA 9.81E-16 mr1496_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
vg0131382321 NA 6.44E-11 mr1781_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
vg0131382321 NA 3.49E-14 mr1936_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