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Detailed information for vg0105640821:

Variant ID: vg0105640821 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 5640821
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGAGACACAGCTTGAGCTAACGTGGCGCGTTCCAATGGCATGCAGGCGGACAGCGGCAAGATCGGGAGCATGGACGGCTCGCCGAACGGCGGCAGGTCGT[C/T]
GTCGTCGTCCTCCTCCTCCTCCGCCGCCGCCGCCGGCGGCGGCGGCGGCGGCCAGGACTTCTTCGGCCAGGTGCCGGAAGTTCACTGGGCCGTGCCGGAG

Reverse complement sequence

CTCCGGCACGGCCCAGTGAACTTCCGGCACCTGGCCGAAGAAGTCCTGGCCGCCGCCGCCGCCGCCGGCGGCGGCGGCGGAGGAGGAGGAGGACGACGAC[G/A]
ACGACCTGCCGCCGTTCGGCGAGCCGTCCATGCTCCCGATCTTGCCGCTGTCCGCCTGCATGCCATTGGAACGCGCCACGTTAGCTCAAGCTGTGTCTCG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 73.50% 9.50% 13.25% 3.77% NA
All Indica  2759 56.50% 16.00% 21.71% 5.73% NA
All Japonica  1512 99.30% 0.10% 0.66% 0.00% NA
Aus  269 98.90% 0.00% 1.12% 0.00% NA
Indica I  595 58.70% 37.80% 3.36% 0.17% NA
Indica II  465 30.30% 20.40% 36.56% 12.69% NA
Indica III  913 66.80% 2.10% 26.73% 4.38% NA
Indica Intermediate  786 58.50% 13.10% 20.99% 7.38% NA
Temperate Japonica  767 99.00% 0.00% 1.04% 0.00% NA
Tropical Japonica  504 99.60% 0.20% 0.20% 0.00% NA
Japonica Intermediate  241 99.60% 0.00% 0.41% 0.00% NA
VI/Aromatic  96 80.20% 2.10% 1.04% 16.67% NA
Intermediate  90 76.70% 4.40% 14.44% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0105640821 C -> T LOC_Os01g10580.1 missense_variant ; p.Ser265Leu; MODERATE nonsynonymous_codon ; S265L Average:95.326; most accessible tissue: Zhenshan97 flag leaf, score: 98.073 unknown unknown TOLERATED 0.44
vg0105640821 C -> DEL LOC_Os01g10580.1 N frameshift_variant Average:95.326; most accessible tissue: Zhenshan97 flag leaf, score: 98.073 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)
vg0105640821 C T -0.03 -0.02 -0.01 -0.02 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0105640821 2.15E-08 2.34E-11 mr1498 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
vg0105640821 1.27E-08 5.79E-16 mr1498 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
vg0105640821 NA 3.28E-10 mr1769 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
vg0105640821 NA 9.79E-14 mr1925 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
vg0105640821 NA 6.32E-12 mr1925 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
vg0105640821 3.95E-06 2.21E-10 mr1951 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
vg0105640821 5.39E-06 1.04E-10 mr1951 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
vg0105640821 9.46E-08 9.40E-19 mr1498_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
vg0105640821 1.81E-06 9.68E-14 mr1498_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
vg0105640821 4.33E-06 1.36E-12 mr1769_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
vg0105640821 7.56E-06 4.53E-11 mr1769_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
vg0105640821 NA 8.44E-06 mr1795_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
vg0105640821 1.58E-06 1.78E-15 mr1925_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
vg0105640821 NA 1.74E-12 mr1925_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
vg0105640821 6.04E-06 1.81E-10 mr1951_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
vg0105640821 NA 1.51E-11 mr1951_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
vg0105640821 NA 1.13E-06 mr1959_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