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Detailed information for vg0700193001:

Variant ID: vg0700193001 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 193001
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, A: 0.04, others allele: 0.00, population size: 222. )

Flanking Sequence (100 bp) in Reference Genome:


AAATTGTCTCGCAAATTAGCTTTCATTTATGTAATTAGTTTTCTAAGTAGTTTATATTTAATACTCTAAATTAGTGTCTAGATACAGAAACTAAAATTAA[G/A]
TCCGTGATCCAAACATCACCCGAGTTGGCTACCTGCACTACATTCATTCCTTGTCAAAGCTGGATGAATACTACTTACAAGACTTGGTTTTTTTTTTCTT

Reverse complement sequence

AAGAAAAAAAAAACCAAGTCTTGTAAGTAGTATTCATCCAGCTTTGACAAGGAATGAATGTAGTGCAGGTAGCCAACTCGGGTGATGTTTGGATCACGGA[C/T]
TTAATTTTAGTTTCTGTATCTAGACACTAATTTAGAGTATTAAATATAAACTACTTAGAAAACTAATTACATAAATGAAAGCTAATTTGCGAGACAATTT

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 55.90% 43.40% 0.36% 0.30% NA
All Indica  2759 36.00% 63.10% 0.54% 0.33% NA
All Japonica  1512 97.80% 1.90% 0.00% 0.26% NA
Aus  269 10.80% 89.20% 0.00% 0.00% NA
Indica I  595 46.40% 52.80% 0.84% 0.00% NA
Indica II  465 52.00% 46.50% 0.86% 0.65% NA
Indica III  913 26.00% 73.60% 0.44% 0.00% NA
Indica Intermediate  786 30.30% 68.70% 0.25% 0.76% NA
Temperate Japonica  767 99.50% 0.40% 0.00% 0.13% NA
Tropical Japonica  504 94.60% 4.80% 0.00% 0.60% NA
Japonica Intermediate  241 99.20% 0.80% 0.00% 0.00% NA
VI/Aromatic  96 88.50% 9.40% 2.08% 0.00% NA
Intermediate  90 64.40% 34.40% 0.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0700193001 G -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700193001 G -> A LOC_Os07g01320.1 downstream_gene_variant ; 2762.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700193001 G -> A LOC_Os07g01310.1 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0700193001 G A 0.05 0.05 0.05 0.0 0.02 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0700193001 6.46E-07 NA mr1158 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
vg0700193001 8.75E-09 3.86E-12 mr1158 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
vg0700193001 NA 1.92E-06 mr1168 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
vg0700193001 NA 3.99E-07 mr1316 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
vg0700193001 7.44E-06 9.65E-09 mr1383 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
vg0700193001 NA 3.75E-06 mr1735 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
vg0700193001 NA 3.95E-13 mr1740 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
vg0700193001 5.99E-07 2.03E-12 mr1158_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
vg0700193001 NA 1.33E-07 mr1168_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
vg0700193001 NA 7.83E-06 mr1236_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
vg0700193001 NA 5.07E-07 mr1383_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
vg0700193001 NA 9.94E-06 mr1682_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