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Detailed information for vg0609100240:

Variant ID: vg0609100240 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 9100240
Reference Allele: GAlternative Allele: T
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.93, T: 0.07, others allele: 0.00, population size: 69. )

Flanking Sequence (100 bp) in Reference Genome:


TTATGTAAGATGGTACCATTTTTCTCACGTTGGTTTAGACAGTGCACTTATTGTTGCGCATAGTGGGCTGGTGCTTACGTAAGATGAGACTTAGGTGGAG[G/T]
TTGGATAAGAGACTTAACTTTAGTCTCTGACACTAATTTAGAGTATTAAATATAGACTAATTACATAAATGAAAGCTAATTTGTGAGATAAATTTTTTAA

Reverse complement sequence

TTAAAAAATTTATCTCACAAATTAGCTTTCATTTATGTAATTAGTCTATATTTAATACTCTAAATTAGTGTCAGAGACTAAAGTTAAGTCTCTTATCCAA[C/A]
CTCCACCTAAGTCTCATCTTACGTAAGCACCAGCCCACTATGCGCAACAATAAGTGCACTGTCTAAACCAACGTGAGAAAAATGGTACCATCTTACATAA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.80% 31.10% 0.13% 0.00% NA
All Indica  2759 68.10% 31.70% 0.14% 0.00% NA
All Japonica  1512 61.90% 38.00% 0.07% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 58.50% 41.30% 0.17% 0.00% NA
Indica II  465 94.00% 5.80% 0.22% 0.00% NA
Indica III  913 55.10% 44.90% 0.00% 0.00% NA
Indica Intermediate  786 75.30% 24.40% 0.25% 0.00% NA
Temperate Japonica  767 28.60% 71.40% 0.00% 0.00% NA
Tropical Japonica  504 98.80% 1.20% 0.00% 0.00% NA
Japonica Intermediate  241 90.90% 8.70% 0.41% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 81.10% 17.80% 1.11% 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
vg0609100240 G -> T LOC_Os06g15995.1 upstream_gene_variant ; 1686.0bp to feature; MODIFIER silent_mutation Average:78.708; most accessible tissue: Callus, score: 92.32 N N N N
vg0609100240 G -> T LOC_Os06g16000.1 upstream_gene_variant ; 503.0bp to feature; MODIFIER silent_mutation Average:78.708; most accessible tissue: Callus, score: 92.32 N N N N
vg0609100240 G -> T LOC_Os06g15990.1 downstream_gene_variant ; 3561.0bp to feature; MODIFIER silent_mutation Average:78.708; most accessible tissue: Callus, score: 92.32 N N N N
vg0609100240 G -> T LOC_Os06g15995-LOC_Os06g16000 intergenic_region ; MODIFIER silent_mutation Average:78.708; most accessible tissue: Callus, score: 92.32 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)
vg0609100240 G T -0.03 -0.04 -0.03 -0.01 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0609100240 NA 7.23E-14 Grain_length Jap_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
vg0609100240 NA 8.27E-06 mr1096 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
vg0609100240 7.89E-11 6.19E-20 mr1570 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
vg0609100240 8.20E-08 7.17E-12 mr1570 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
vg0609100240 NA 9.54E-09 mr1570 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
vg0609100240 1.71E-06 NA mr1087_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
vg0609100240 NA 1.17E-13 mr1087_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
vg0609100240 NA 6.08E-06 mr1091_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
vg0609100240 NA 2.11E-07 mr1096_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
vg0609100240 NA 3.30E-10 mr1530_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
vg0609100240 1.60E-08 2.34E-12 mr1570_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
vg0609100240 1.15E-08 1.27E-16 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