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Detailed information for vg0905341973:

Variant ID: vg0905341973 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 5341973
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AACGGGGTCCTCGGTGTGCCCACCAATCAATGTCGGGTTTTGACCTCAATCAGCATTGATGTGTTGTGTCATCAGTGCCGGGTTGTTGCTTACTCCCTCC[C/G]
TCCGTCCTAAAAAAAAGATTCTCATAAATAAAAAAGTAGTAAAAGTGATATGTAGTTAAAGGGTATTTAAGAGATAAAACTTCTCGTTTTATGTTCTGGA

Reverse complement sequence

TCCAGAACATAAAACGAGAAGTTTTATCTCTTAAATACCCTTTAACTACATATCACTTTTACTACTTTTTTATTTATGAGAATCTTTTTTTTAGGACGGA[G/C]
GGAGGGAGTAAGCAACAACCCGGCACTGATGACACAACACATCAATGCTGATTGAGGTCAAAACCCGACATTGATTGGTGGGCACACCGAGGACCCCGTT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 56.50% 0.20% 21.67% 21.60% NA
All Indica  2759 29.20% 0.30% 35.23% 35.23% NA
All Japonica  1512 97.60% 0.10% 1.32% 0.99% NA
Aus  269 85.90% 0.00% 7.81% 6.32% NA
Indica I  595 26.90% 0.30% 50.92% 21.85% NA
Indica II  465 29.50% 0.60% 28.82% 41.08% NA
Indica III  913 29.10% 0.10% 27.05% 43.70% NA
Indica Intermediate  786 31.00% 0.30% 36.64% 32.06% NA
Temperate Japonica  767 99.30% 0.00% 0.52% 0.13% NA
Tropical Japonica  504 95.20% 0.00% 2.78% 1.98% NA
Japonica Intermediate  241 97.10% 0.40% 0.83% 1.66% NA
VI/Aromatic  96 96.90% 0.00% 1.04% 2.08% NA
Intermediate  90 71.10% 1.10% 11.11% 16.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0905341973 C -> G LOC_Os09g09830-LOC_Os09g09850 intergenic_region ; MODIFIER silent_mutation Average:88.019; most accessible tissue: Callus, score: 97.45 N N N N
vg0905341973 C -> DEL N N silent_mutation Average:88.019; most accessible tissue: Callus, score: 97.45 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)
vg0905341973 C G -0.09 -0.14 -0.08 -0.04 -0.06 -0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0905341973 3.47E-06 NA mr1077 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
vg0905341973 3.09E-06 2.10E-06 mr1322 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
vg0905341973 5.06E-06 7.14E-06 mr1712 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