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Detailed information for vg0704858080:

Variant ID: vg0704858080 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 4858080
Reference Allele: CAlternative Allele: A,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATTATCTATTATCTATTATCTTCTATCTATTATATATTAAAAGTCCATGAAACATCCTATAAACGCTCCTAAACCGCCATGTGTCACTCTAAAAACGCTC[C/A,T]
CAAGTCGCCATGTGGCGCTTTAATAAATTAAAAGAATTCTGAGAAAAAGCAAAACATCTAATCGTTGATTTTCATTTAATCTGATGGACCCATTATTTTC

Reverse complement sequence

GAAAATAATGGGTCCATCAGATTAAATGAAAATCAACGATTAGATGTTTTGCTTTTTCTCAGAATTCTTTTAATTTATTAAAGCGCCACATGGCGACTTG[G/T,A]
GAGCGTTTTTAGAGTGACACATGGCGGTTTAGGAGCGTTTATAGGATGTTTCATGGACTTTTAATATATAATAGATAGAAGATAATAGATAATAGATAAT

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 87.60% 9.00% 3.28% 0.13% NA
All Indica  2759 98.40% 1.10% 0.40% 0.07% NA
All Japonica  1512 82.50% 13.80% 3.64% 0.13% NA
Aus  269 33.50% 45.70% 20.07% 0.74% NA
Indica I  595 99.70% 0.00% 0.34% 0.00% NA
Indica II  465 98.10% 1.50% 0.22% 0.22% NA
Indica III  913 98.90% 1.10% 0.00% 0.00% NA
Indica Intermediate  786 97.20% 1.70% 1.02% 0.13% NA
Temperate Japonica  767 98.60% 1.00% 0.39% 0.00% NA
Tropical Japonica  504 53.20% 37.10% 9.33% 0.40% NA
Japonica Intermediate  241 92.50% 5.40% 2.07% 0.00% NA
VI/Aromatic  96 17.70% 51.00% 31.25% 0.00% NA
Intermediate  90 80.00% 14.40% 5.56% 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
vg0704858080 C -> DEL N N silent_mutation Average:74.234; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0704858080 C -> A LOC_Os07g09270.1 downstream_gene_variant ; 1067.0bp to feature; MODIFIER silent_mutation Average:74.234; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0704858080 C -> A LOC_Os07g09270-LOC_Os07g09280 intergenic_region ; MODIFIER silent_mutation Average:74.234; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0704858080 C -> T LOC_Os07g09270.1 downstream_gene_variant ; 1067.0bp to feature; MODIFIER N Average:74.234; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0704858080 C -> T LOC_Os07g09270-LOC_Os07g09280 intergenic_region ; MODIFIER N Average:74.234; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 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)
vg0704858080 C A 0.01 0.01 0.01 0.0 0.01 0.01
vg0704858080 C T 0.01 -0.01 0.0 0.0 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0704858080 4.80E-06 NA mr1226 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
vg0704858080 3.99E-07 3.99E-07 mr1076_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
vg0704858080 2.48E-07 NA mr1082_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
vg0704858080 NA 8.73E-06 mr1082_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
vg0704858080 2.59E-09 NA mr1083_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
vg0704858080 NA 1.43E-07 mr1083_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
vg0704858080 4.16E-06 NA mr1085_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
vg0704858080 4.46E-09 NA mr1104_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
vg0704858080 NA 1.19E-06 mr1104_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
vg0704858080 5.45E-07 NA mr1107_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
vg0704858080 NA 8.61E-06 mr1107_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
vg0704858080 1.10E-06 NA mr1145_2 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
vg0704858080 1.52E-06 NA mr1155_2 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
vg0704858080 2.29E-06 NA mr1226_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
vg0704858080 1.22E-08 7.22E-11 mr1408_2 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
vg0704858080 NA 1.70E-07 mr1408_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