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Detailed information for vg0418095232:

Variant ID: vg0418095232 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 18095232
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.56, T: 0.44, others allele: 0.00, population size: 55. )

Flanking Sequence (100 bp) in Reference Genome:


GCGGCGGGTCATCCTGTTCGACGAGTTCAGCTTCAGGCCTGGCGGCGTCTCGGCCGTGTCCGTCCACGGGTGTCATGGCGGATGGCCGAGGCCCGAGAGG[C/T]
CGAAGCTCCAGGCCGCCGACCCTGGCCTAATGGGGTTCATCCTCATCTCAAACTCCCTCTTCTTTCAGATCAACAAACGAGTCCGACTACGCTGAGGCCA

Reverse complement sequence

TGGCCTCAGCGTAGTCGGACTCGTTTGTTGATCTGAAAGAAGAGGGAGTTTGAGATGAGGATGAACCCCATTAGGCCAGGGTCGGCGGCCTGGAGCTTCG[G/A]
CCTCTCGGGCCTCGGCCATCCGCCATGACACCCGTGGACGGACACGGCCGAGACGCCGCCAGGCCTGAAGCTGAACTCGTCGAACAGGATGACCCGCCGC

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 42.20% 5.40% 23.19% 29.20% NA
All Indica  2759 24.90% 8.00% 34.90% 32.11% NA
All Japonica  1512 67.90% 0.50% 3.51% 28.11% NA
Aus  269 53.90% 8.60% 22.30% 15.24% NA
Indica I  595 43.90% 6.10% 31.60% 18.49% NA
Indica II  465 43.20% 4.90% 27.74% 24.09% NA
Indica III  913 2.70% 12.40% 39.98% 44.91% NA
Indica Intermediate  786 25.60% 6.40% 35.75% 32.32% NA
Temperate Japonica  767 97.40% 0.00% 0.78% 1.83% NA
Tropical Japonica  504 34.30% 0.80% 5.75% 59.13% NA
Japonica Intermediate  241 44.40% 1.20% 7.47% 46.89% NA
VI/Aromatic  96 77.10% 1.00% 8.33% 13.54% NA
Intermediate  90 66.70% 3.30% 13.33% 16.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0418095232 C -> DEL N N silent_mutation Average:62.307; most accessible tissue: Zhenshan97 flag leaf, score: 88.196 N N N N
vg0418095232 C -> T LOC_Os04g30300.1 upstream_gene_variant ; 3698.0bp to feature; MODIFIER silent_mutation Average:62.307; most accessible tissue: Zhenshan97 flag leaf, score: 88.196 N N N N
vg0418095232 C -> T LOC_Os04g30310.1 upstream_gene_variant ; 1146.0bp to feature; MODIFIER silent_mutation Average:62.307; most accessible tissue: Zhenshan97 flag leaf, score: 88.196 N N N N
vg0418095232 C -> T LOC_Os04g30320.1 upstream_gene_variant ; 947.0bp to feature; MODIFIER silent_mutation Average:62.307; most accessible tissue: Zhenshan97 flag leaf, score: 88.196 N N N N
vg0418095232 C -> T LOC_Os04g30330.1 downstream_gene_variant ; 3916.0bp to feature; MODIFIER silent_mutation Average:62.307; most accessible tissue: Zhenshan97 flag leaf, score: 88.196 N N N N
vg0418095232 C -> T LOC_Os04g30310-LOC_Os04g30320 intergenic_region ; MODIFIER silent_mutation Average:62.307; most accessible tissue: Zhenshan97 flag leaf, score: 88.196 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)
vg0418095232 C T -0.01 -0.02 -0.02 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0418095232 NA 5.16E-06 mr1104 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
vg0418095232 NA 1.57E-07 mr1213 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
vg0418095232 NA 1.57E-07 mr1851 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
vg0418095232 NA 7.41E-06 mr1221_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
vg0418095232 1.65E-06 7.60E-08 mr1228_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
vg0418095232 NA 1.92E-06 mr1554_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
vg0418095232 NA 9.19E-06 mr1557_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
vg0418095232 NA 4.04E-06 mr1566_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
vg0418095232 NA 1.12E-07 mr1606_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
vg0418095232 NA 3.27E-08 mr1676_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
vg0418095232 NA 5.32E-06 mr1860_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
vg0418095232 NA 3.62E-06 mr1873_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
vg0418095232 NA 9.04E-07 mr1905_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
vg0418095232 NA 4.39E-10 mr1916_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
vg0418095232 NA 2.82E-06 mr1944_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
vg0418095232 NA 5.34E-07 mr1952_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