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Detailed information for vg0502503516:

Variant ID: vg0502503516 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 2503516
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTGATATTTTCGGTTGCCAACTTGGCTGCTTGCTTGGCACTGCCACCTCGACCATCTCCCTCAACTTCCCAACCCATCTAGCTCGTTTTCCACGTGCACG[T/C]
TTTTCAAACTGCTAAACGTTATGTTTTTTATAAAAAGTTTCTATACAAAAGTTACTTAAAAAATCAAATTAATCCATTTTTGAAAAAAAAATAGCTAATA

Reverse complement sequence

TATTAGCTATTTTTTTTTCAAAAATGGATTAATTTGATTTTTTAAGTAACTTTTGTATAGAAACTTTTTATAAAAAACATAACGTTTAGCAGTTTGAAAA[A/G]
CGTGCACGTGGAAAACGAGCTAGATGGGTTGGGAAGTTGAGGGAGATGGTCGAGGTGGCAGTGCCAAGCAAGCAGCCAAGTTGGCAACCGAAAATATCAA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 79.30% 20.50% 0.13% 0.00% NA
All Indica  2759 99.20% 0.80% 0.04% 0.00% NA
All Japonica  1512 38.70% 61.00% 0.33% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 98.10% 1.70% 0.22% 0.00% NA
Indica III  913 99.50% 0.50% 0.00% 0.00% NA
Indica Intermediate  786 99.20% 0.80% 0.00% 0.00% NA
Temperate Japonica  767 6.30% 93.20% 0.52% 0.00% NA
Tropical Japonica  504 92.70% 7.30% 0.00% 0.00% NA
Japonica Intermediate  241 29.00% 70.50% 0.41% 0.00% NA
VI/Aromatic  96 94.80% 5.20% 0.00% 0.00% NA
Intermediate  90 75.60% 24.40% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0502503516 T -> C LOC_Os05g05140.1 upstream_gene_variant ; 128.0bp to feature; MODIFIER silent_mutation Average:96.259; most accessible tissue: Zhenshan97 flag leaf, score: 99.231 N N N N
vg0502503516 T -> C LOC_Os05g05150.1 upstream_gene_variant ; 2706.0bp to feature; MODIFIER silent_mutation Average:96.259; most accessible tissue: Zhenshan97 flag leaf, score: 99.231 N N N N
vg0502503516 T -> C LOC_Os05g05140.2 upstream_gene_variant ; 144.0bp to feature; MODIFIER silent_mutation Average:96.259; most accessible tissue: Zhenshan97 flag leaf, score: 99.231 N N N N
vg0502503516 T -> C LOC_Os05g05130.1 downstream_gene_variant ; 4074.0bp to feature; MODIFIER silent_mutation Average:96.259; most accessible tissue: Zhenshan97 flag leaf, score: 99.231 N N N N
vg0502503516 T -> C LOC_Os05g05140-LOC_Os05g05150 intergenic_region ; MODIFIER silent_mutation Average:96.259; most accessible tissue: Zhenshan97 flag leaf, score: 99.231 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)
vg0502503516 T C 0.02 0.01 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
vg0502503516 NA 1.14E-36 Grain_thickness All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0502503516 NA 5.48E-08 mr1364 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
vg0502503516 NA 7.14E-14 mr1410 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
vg0502503516 NA 8.59E-09 mr1549 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
vg0502503516 NA 2.98E-18 mr1593 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
vg0502503516 NA 1.87E-09 mr1691 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
vg0502503516 NA 5.53E-09 mr1693 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
vg0502503516 NA 1.31E-13 mr1741 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
vg0502503516 NA 1.19E-06 mr1742 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
vg0502503516 NA 6.18E-19 mr1156_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
vg0502503516 NA 8.24E-14 mr1410_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
vg0502503516 NA 7.50E-07 mr1570_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
vg0502503516 2.74E-07 9.00E-32 mr1593_2 Jap_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
vg0502503516 NA 7.08E-09 mr1624_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
vg0502503516 NA 1.57E-21 mr1679_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
vg0502503516 NA 1.01E-06 mr1679_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
vg0502503516 NA 1.36E-16 mr1699_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
vg0502503516 NA 2.60E-07 mr1733_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
vg0502503516 NA 1.29E-08 mr1742_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
vg0502503516 NA 5.63E-06 mr1763_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
vg0502503516 NA 4.32E-11 mr1844_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