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Detailed information for vg0218543938:

Variant ID: vg0218543938 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 18543938
Reference Allele: GAlternative Allele: A
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: 254. )

Flanking Sequence (100 bp) in Reference Genome:


TTCTTGACCGAGTTCCTGGGCACCCCCTAACATATACTAGCTCCGCTCCTGATTATAATAAAATTGTAACTTTGTCTCCCTCAGAAATTTGGATCCACCT[G/A]
TCACACATATATACTTCCAATACTCTCATTGTTTCTACTTAGCCCCACCTGTCAAATATGCATATAGGGACACTATGGTAAGGCTATAGTATAAGTGATA

Reverse complement sequence

TATCACTTATACTATAGCCTTACCATAGTGTCCCTATATGCATATTTGACAGGTGGGGCTAAGTAGAAACAATGAGAGTATTGGAAGTATATATGTGTGA[C/T]
AGGTGGATCCAAATTTCTGAGGGAGACAAAGTTACAATTTTATTATAATCAGGAGCGGAGCTAGTATATGTTAGGGGGTGCCCAGGAACTCGGTCAAGAA

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 19.20% 7.70% 10.69% 62.40% NA
All Indica  2759 3.90% 7.60% 10.15% 78.36% NA
All Japonica  1512 51.10% 8.30% 11.38% 29.30% NA
Aus  269 3.30% 0.70% 14.50% 81.41% NA
Indica I  595 2.40% 0.00% 10.08% 87.56% NA
Indica II  465 4.30% 20.40% 7.74% 67.53% NA
Indica III  913 5.40% 7.60% 11.94% 75.14% NA
Indica Intermediate  786 3.10% 5.90% 9.54% 81.55% NA
Temperate Japonica  767 81.00% 12.90% 1.96% 4.17% NA
Tropical Japonica  504 14.90% 0.00% 20.63% 64.48% NA
Japonica Intermediate  241 31.50% 10.80% 21.99% 35.68% NA
VI/Aromatic  96 7.30% 24.00% 5.21% 63.54% NA
Intermediate  90 14.40% 4.40% 10.00% 71.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0218543938 G -> A LOC_Os02g31040.1 upstream_gene_variant ; 2754.0bp to feature; MODIFIER silent_mutation Average:74.655; most accessible tissue: Zhenshan97 young leaf, score: 84.624 N N N N
vg0218543938 G -> A LOC_Os02g31030.2 downstream_gene_variant ; 3026.0bp to feature; MODIFIER silent_mutation Average:74.655; most accessible tissue: Zhenshan97 young leaf, score: 84.624 N N N N
vg0218543938 G -> A LOC_Os02g31030.1 downstream_gene_variant ; 3026.0bp to feature; MODIFIER silent_mutation Average:74.655; most accessible tissue: Zhenshan97 young leaf, score: 84.624 N N N N
vg0218543938 G -> A LOC_Os02g31030-LOC_Os02g31040 intergenic_region ; MODIFIER silent_mutation Average:74.655; most accessible tissue: Zhenshan97 young leaf, score: 84.624 N N N N
vg0218543938 G -> DEL N N silent_mutation Average:74.655; most accessible tissue: Zhenshan97 young leaf, score: 84.624 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)
vg0218543938 G A -0.08 -0.04 -0.02 -0.02 -0.04 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0218543938 3.65E-06 NA mr1897 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
vg0218543938 1.42E-09 1.98E-11 mr1317_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
vg0218543938 6.15E-06 6.15E-06 mr1317_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
vg0218543938 8.21E-06 NA mr1818_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
vg0218543938 4.14E-11 NA mr1897_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
vg0218543938 4.44E-08 4.44E-08 mr1897_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
vg0218543938 8.86E-09 NA mr1914_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
vg0218543938 8.55E-07 8.55E-07 mr1914_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
vg0218543938 1.34E-06 NA mr1927_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