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Detailed information for vg0608187758:

Variant ID: vg0608187758 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 8187758
Reference Allele: CAlternative Allele: A,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 45. )

Flanking Sequence (100 bp) in Reference Genome:


CACTACTCTTCCAATGCAAACATCAATATTCCATACTTCAATTTAATGCTACTTATTTCATATGATGTCTTGGATATTATGTAGAAACCATGTCTCGTTT[C/A,T]
CTTCTCTTTTCTCATTTATTCACTTGCCACATCATTTTTTTTTGTCCTAAGTGACAACTTATTTAACGTTATGGACATCATCTTAGTTATTGGGTTGAAA

Reverse complement sequence

TTTCAACCCAATAACTAAGATGATGTCCATAACGTTAAATAAGTTGTCACTTAGGACAAAAAAAAATGATGTGGCAAGTGAATAAATGAGAAAAGAGAAG[G/T,A]
AAACGAGACATGGTTTCTACATAATATCCAAGACATCATATGAAATAAGTAGCATTAAATTGAAGTATGGAATATTGATGTTTGCATTGGAAGAGTAGTG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 54.90% 27.80% 9.10% 8.19% T: 0.02%
All Indica  2759 35.20% 44.80% 15.01% 4.97% NA
All Japonica  1512 98.70% 0.70% 0.33% 0.26% NA
Aus  269 8.90% 0.70% 1.12% 88.85% T: 0.37%
Indica I  595 42.20% 41.30% 15.29% 1.18% NA
Indica II  465 12.50% 51.40% 26.45% 9.68% NA
Indica III  913 48.10% 39.10% 8.87% 3.94% NA
Indica Intermediate  786 28.40% 50.30% 15.14% 6.23% NA
Temperate Japonica  767 98.80% 0.80% 0.39% 0.00% NA
Tropical Japonica  504 99.00% 0.00% 0.40% 0.60% NA
Japonica Intermediate  241 97.90% 1.70% 0.00% 0.41% NA
VI/Aromatic  96 54.20% 40.60% 1.04% 4.17% NA
Intermediate  90 58.90% 30.00% 7.78% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0608187758 C -> T LOC_Os06g14540.1 upstream_gene_variant ; 3134.0bp to feature; MODIFIER silent_mutation Average:73.051; most accessible tissue: Zhenshan97 flower, score: 96.588 N N N N
vg0608187758 C -> T LOC_Os06g14540-LOC_Os06g14550 intergenic_region ; MODIFIER silent_mutation Average:73.051; most accessible tissue: Zhenshan97 flower, score: 96.588 N N N N
vg0608187758 C -> A LOC_Os06g14540.1 upstream_gene_variant ; 3134.0bp to feature; MODIFIER silent_mutation Average:73.051; most accessible tissue: Zhenshan97 flower, score: 96.588 N N N N
vg0608187758 C -> A LOC_Os06g14540-LOC_Os06g14550 intergenic_region ; MODIFIER silent_mutation Average:73.051; most accessible tissue: Zhenshan97 flower, score: 96.588 N N N N
vg0608187758 C -> DEL N N silent_mutation Average:73.051; most accessible tissue: Zhenshan97 flower, score: 96.588 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)
vg0608187758 C A 0.01 0.0 -0.01 0.02 0.01 0.01
vg0608187758 C T 0.03 0.05 0.04 0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0608187758 NA 4.40E-08 mr1053 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
vg0608187758 NA 6.42E-11 mr1138 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
vg0608187758 NA 6.18E-07 mr1157 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
vg0608187758 NA 4.46E-08 mr1446 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
vg0608187758 2.89E-06 NA 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
vg0608187758 NA 1.76E-09 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
vg0608187758 NA 6.91E-11 mr1663 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
vg0608187758 NA 2.67E-08 mr1763 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
vg0608187758 NA 2.92E-11 mr1819 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
vg0608187758 NA 8.18E-06 mr1876 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
vg0608187758 NA 9.36E-12 mr1377_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
vg0608187758 2.32E-07 3.07E-11 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
vg0608187758 NA 5.62E-17 mr1578_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
vg0608187758 NA 7.35E-07 mr1668_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
vg0608187758 NA 1.81E-06 mr1754_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
vg0608187758 NA 6.15E-07 mr1819_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