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Detailed information for vg0223096991:

Variant ID: vg0223096991 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 23096991
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, A: 0.01, others allele: 0.00, population size: 254. )

Flanking Sequence (100 bp) in Reference Genome:


AATTGGATATCGAATAGTGAAATTTCTCAAAACTTTGATTATCTAGCCACTAGCAGCAGACATTAGACGGACCATGGATGCAGGTTCTGCAACAAAAGCT[C/A]
ATCAGAGTCTACACTTGACAGTCACTTGGAGCTTCGGAATATCCCCATAGCATCTTCCATTTCTGTGGCTTGAATCTGGGGTGTTCATGTCAGCAGCAGA

Reverse complement sequence

TCTGCTGCTGACATGAACACCCCAGATTCAAGCCACAGAAATGGAAGATGCTATGGGGATATTCCGAAGCTCCAAGTGACTGTCAAGTGTAGACTCTGAT[G/T]
AGCTTTTGTTGCAGAACCTGCATCCATGGTCCGTCTAATGTCTGCTGCTAGTGGCTAGATAATCAAAGTTTTGAGAAATTTCACTATTCGATATCCAATT

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 94.10% 5.60% 0.25% 0.00% NA
All Indica  2759 99.10% 0.90% 0.07% 0.00% NA
All Japonica  1512 85.40% 14.00% 0.60% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.30% 0.50% 0.17% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 98.60% 1.40% 0.00% 0.00% NA
Indica Intermediate  786 98.90% 1.00% 0.13% 0.00% NA
Temperate Japonica  767 88.50% 10.80% 0.65% 0.00% NA
Tropical Japonica  504 87.30% 12.70% 0.00% 0.00% NA
Japonica Intermediate  241 71.80% 26.60% 1.66% 0.00% NA
VI/Aromatic  96 78.10% 21.90% 0.00% 0.00% NA
Intermediate  90 87.80% 11.10% 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
vg0223096991 C -> A LOC_Os02g38170.1 upstream_gene_variant ; 1055.0bp to feature; MODIFIER silent_mutation Average:86.273; most accessible tissue: Minghui63 flag leaf, score: 98.209 N N N N
vg0223096991 C -> A LOC_Os02g38180.1 downstream_gene_variant ; 1487.0bp to feature; MODIFIER silent_mutation Average:86.273; most accessible tissue: Minghui63 flag leaf, score: 98.209 N N N N
vg0223096991 C -> A LOC_Os02g38160-LOC_Os02g38170 intergenic_region ; MODIFIER silent_mutation Average:86.273; most accessible tissue: Minghui63 flag leaf, score: 98.209 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)
vg0223096991 C A -0.03 0.0 0.03 -0.06 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0223096991 1.30E-12 NA mr1334 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
vg0223096991 2.65E-06 NA mr1334 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
vg0223096991 4.18E-06 NA mr1071_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
vg0223096991 3.14E-06 NA mr1080_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
vg0223096991 6.09E-07 NA mr1100_2 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
vg0223096991 NA 6.41E-07 mr1113_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
vg0223096991 NA 2.87E-06 mr1117_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
vg0223096991 NA 7.15E-06 mr1119_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
vg0223096991 NA 6.81E-06 mr1120_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
vg0223096991 8.73E-07 NA mr1203_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
vg0223096991 NA 9.08E-06 mr1240_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
vg0223096991 3.10E-09 NA mr1334_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
vg0223096991 1.79E-06 NA mr1613_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