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Detailed information for vg1226522030:

Variant ID: vg1226522030 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 26522030
Reference Allele: GAlternative Allele: C,A
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGTGGACCCCAGCTCCCGAGCCCGTCTCCGTCCCCAAGGCCAGCTCGGGCCCCTCGTAGCTGCCTCACACCGCCTACTGGGTGATGCAGTTCGACGGCTC[G/C,A]
TTGTCTCTTCAGGGTGCCGGTGCGGGGGTCACGTTGACCTCGCCGAGCGGAGACGTCCTCAGATACCTGGTCCGCCTCGACTTTCGGGCGACCAACAATA

Reverse complement sequence

TATTGTTGGTCGCCCGAAAGTCGAGGCGGACCAGGTATCTGAGGACGTCTCCGCTCGGCGAGGTCAACGTGACCCCCGCACCGGCACCCTGAAGAGACAA[C/G,T]
GAGCCGTCGAACTGCATCACCCAGTAGGCGGTGTGAGGCAGCTACGAGGGGCCCGAGCTGGCCTTGGGGACGGAGACGGGCTCGGGAGCTGGGGTCCACT

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 61.40% 0.40% 18.07% 20.14% NA
All Indica  2759 44.20% 0.40% 22.04% 33.35% NA
All Japonica  1512 99.90% 0.00% 0.00% 0.07% NA
Aus  269 8.20% 3.00% 84.01% 4.83% NA
Indica I  595 91.40% 0.20% 2.52% 5.88% NA
Indica II  465 22.20% 0.60% 29.46% 47.74% NA
Indica III  913 23.20% 0.20% 31.43% 45.13% NA
Indica Intermediate  786 45.80% 0.80% 21.50% 31.93% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.00% 0.00% 0.20% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 86.50% 0.00% 11.46% 2.08% NA
Intermediate  90 72.20% 0.00% 10.00% 17.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1226522030 G -> C LOC_Os12g42690.1 downstream_gene_variant ; 2077.0bp to feature; MODIFIER silent_mutation Average:48.417; most accessible tissue: Zhenshan97 flag leaf, score: 87.567 N N N N
vg1226522030 G -> C LOC_Os12g42680.1 intron_variant ; MODIFIER silent_mutation Average:48.417; most accessible tissue: Zhenshan97 flag leaf, score: 87.567 N N N N
vg1226522030 G -> DEL N N silent_mutation Average:48.417; most accessible tissue: Zhenshan97 flag leaf, score: 87.567 N N N N
vg1226522030 G -> A LOC_Os12g42690.1 downstream_gene_variant ; 2077.0bp to feature; MODIFIER N Average:48.417; most accessible tissue: Zhenshan97 flag leaf, score: 87.567 N N N N
vg1226522030 G -> A LOC_Os12g42680.1 intron_variant ; MODIFIER N Average:48.417; most accessible tissue: Zhenshan97 flag leaf, score: 87.567 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)
vg1226522030 G A -0.02 -0.02 -0.02 -0.01 -0.02 -0.02
vg1226522030 G C 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1226522030 NA 2.75E-06 mr1269 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