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Detailed information for vg0617480222:

Variant ID: vg0617480222 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 17480222
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCCCCGCGTCGGGCCGTCGCCGTCATGGGCCGCGCCGATCTGGGCCACGTACGCCTAAGCGCCGCGCGCGCACATAAAAATGGACCGGCCTTTCAATAA[G/C]
AGTGGGCCTTTTATTTTAATTTATTATTGAGCCTGTGAAGTTAATTTTCTCAGAATTTATTTAGCCCGTTTTTTATGGGCCGGCTTAGGAAGTGATGGGC

Reverse complement sequence

GCCCATCACTTCCTAAGCCGGCCCATAAAAAACGGGCTAAATAAATTCTGAGAAAATTAACTTCACAGGCTCAATAATAAATTAAAATAAAAGGCCCACT[C/G]
TTATTGAAAGGCCGGTCCATTTTTATGTGCGCGCGCGGCGCTTAGGCGTACGTGGCCCAGATCGGCGCGGCCCATGACGGCGACGGCCCGACGCGGGGCC

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 85.50% 1.40% 9.99% 3.15% NA
All Indica  2759 83.80% 2.20% 13.05% 0.94% NA
All Japonica  1512 92.60% 0.10% 1.52% 5.75% NA
Aus  269 78.10% 0.40% 13.01% 8.55% NA
Indica I  595 92.80% 0.80% 5.71% 0.67% NA
Indica II  465 90.80% 1.30% 6.88% 1.08% NA
Indica III  913 76.30% 3.50% 19.50% 0.66% NA
Indica Intermediate  786 81.70% 2.20% 14.76% 1.40% NA
Temperate Japonica  767 97.00% 0.00% 1.69% 1.30% NA
Tropical Japonica  504 86.10% 0.00% 1.39% 12.50% NA
Japonica Intermediate  241 92.10% 0.80% 1.24% 5.81% NA
VI/Aromatic  96 51.00% 2.10% 39.58% 7.29% NA
Intermediate  90 74.40% 1.10% 17.78% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0617480222 G -> C LOC_Os06g30290.1 intron_variant ; MODIFIER silent_mutation Average:93.657; most accessible tissue: Minghui63 young leaf, score: 99.274 N N N N
vg0617480222 G -> DEL N N silent_mutation Average:93.657; most accessible tissue: Minghui63 young leaf, score: 99.274 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)
vg0617480222 G C -0.02 -0.02 -0.02 -0.03 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0617480222 1.92E-06 1.86E-06 mr1113 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
vg0617480222 1.83E-06 2.70E-06 mr1247 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