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Detailed information for vg0400913684:

Variant ID: vg0400913684 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 913684
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAAACAATTAAGGAGATGTGAGGAGATGCAATTTACATCCTTGATAAATCATCCAAAGGCTAAAAACAATTAAGGTGATGTGAAGAGATGCAATTTACAT[C/T]
CTTGATAAATCATCCAAAGGCTAAAAATAATTGAGGTGATATGCATTAACTATACTTGGGGGATGGGATGGACTTTATAGATATATATGATTTCTTCTCT

Reverse complement sequence

AGAGAAGAAATCATATATATCTATAAAGTCCATCCCATCCCCCAAGTATAGTTAATGCATATCACCTCAATTATTTTTAGCCTTTGGATGATTTATCAAG[G/A]
ATGTAAATTGCATCTCTTCACATCACCTTAATTGTTTTTAGCCTTTGGATGATTTATCAAGGATGTAAATTGCATCTCCTCACATCTCCTTAATTGTTTT

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 80.20% 13.30% 5.08% 1.40% NA
All Indica  2759 73.50% 22.60% 3.59% 0.29% NA
All Japonica  1512 99.70% 0.10% 0.13% 0.07% NA
Aus  269 30.50% 0.00% 48.33% 21.19% NA
Indica I  595 32.90% 66.60% 0.17% 0.34% NA
Indica II  465 81.90% 9.50% 8.60% 0.00% NA
Indica III  913 87.80% 8.50% 3.29% 0.33% NA
Indica Intermediate  786 82.60% 13.50% 3.56% 0.38% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 0.00% 0.83% 0.41% NA
VI/Aromatic  96 96.90% 0.00% 3.12% 0.00% NA
Intermediate  90 88.90% 4.40% 6.67% 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
vg0400913684 C -> DEL N N silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 N N N N
vg0400913684 C -> T LOC_Os04g02510.1 upstream_gene_variant ; 182.0bp to feature; MODIFIER silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 N N N N
vg0400913684 C -> T LOC_Os04g02500.1 downstream_gene_variant ; 3725.0bp to feature; MODIFIER silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 N N N N
vg0400913684 C -> T LOC_Os04g02500.2 downstream_gene_variant ; 3719.0bp to feature; MODIFIER silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 N N N N
vg0400913684 C -> T LOC_Os04g02500.3 downstream_gene_variant ; 3719.0bp to feature; MODIFIER silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 N N N N
vg0400913684 C -> T LOC_Os04g02500.4 downstream_gene_variant ; 3719.0bp to feature; MODIFIER silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 N N N N
vg0400913684 C -> T LOC_Os04g02500.5 downstream_gene_variant ; 3719.0bp to feature; MODIFIER silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 N N N N
vg0400913684 C -> T LOC_Os04g02500-LOC_Os04g02510 intergenic_region ; MODIFIER silent_mutation Average:77.734; most accessible tissue: Callus, score: 90.294 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)
vg0400913684 C T -0.02 -0.04 -0.04 -0.01 -0.02 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0400913684 NA 9.86E-06 mr1201 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
vg0400913684 NA 3.83E-12 mr1565 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
vg0400913684 NA 4.29E-06 mr1715 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
vg0400913684 NA 1.39E-07 mr1201_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
vg0400913684 NA 4.24E-06 mr1274_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
vg0400913684 NA 1.03E-07 mr1482_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
vg0400913684 1.55E-06 NA mr1565_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
vg0400913684 1.13E-08 1.57E-16 mr1565_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