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Detailed information for vg0400775321:

Variant ID: vg0400775321 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 775321
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GATGAACCCCTGATGGCCTCCACTGCATACATCTGGTCCAACACCCTCAACGCCTTCATGTTCAACCAAGGGCAGATGACCCCCACTTTGCTAGACATCA[T/C]
CATGATTACTGGCCTAGACATCTCAGCATCGGCCAACCCTATGAACTTGAACTCCAAGAATCAGTTTGAGTTCAAAACCAAAACCATAGGTGGCTGGTCC

Reverse complement sequence

GGACCAGCCACCTATGGTTTTGGTTTTGAACTCAAACTGATTCTTGGAGTTCAAGTTCATAGGGTTGGCCGATGCTGAGATGTCTAGGCCAGTAATCATG[A/G]
TGATGTCTAGCAAAGTGGGGGTCATCTGCCCTTGGTTGAACATGAAGGCGTTGAGGGTGTTGGACCAGATGTATGCAGTGGAGGCCATCAGGGGTTCATC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 37.50% 0.30% 5.56% 56.67% NA
All Indica  2759 10.00% 0.50% 9.13% 80.32% NA
All Japonica  1512 77.00% 0.00% 0.40% 22.62% NA
Aus  269 78.10% 0.00% 0.00% 21.93% NA
Indica I  595 6.90% 0.30% 5.55% 87.23% NA
Indica II  465 10.80% 0.40% 9.89% 78.92% NA
Indica III  913 10.40% 0.90% 12.16% 76.56% NA
Indica Intermediate  786 11.60% 0.30% 7.89% 80.28% NA
Temperate Japonica  767 75.90% 0.00% 0.13% 23.99% NA
Tropical Japonica  504 81.00% 0.00% 0.40% 18.65% NA
Japonica Intermediate  241 72.20% 0.00% 1.24% 26.56% NA
VI/Aromatic  96 71.90% 0.00% 3.12% 25.00% NA
Intermediate  90 56.70% 0.00% 2.22% 41.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0400775321 T -> C LOC_Os04g02230.1 upstream_gene_variant ; 4568.0bp to feature; MODIFIER silent_mutation Average:65.139; most accessible tissue: Minghui63 young leaf, score: 90.357 N N N N
vg0400775321 T -> C LOC_Os04g02250.1 downstream_gene_variant ; 3477.0bp to feature; MODIFIER silent_mutation Average:65.139; most accessible tissue: Minghui63 young leaf, score: 90.357 N N N N
vg0400775321 T -> C LOC_Os04g02240.1 intron_variant ; MODIFIER silent_mutation Average:65.139; most accessible tissue: Minghui63 young leaf, score: 90.357 N N N N
vg0400775321 T -> DEL N N silent_mutation Average:65.139; most accessible tissue: Minghui63 young leaf, score: 90.357 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)
vg0400775321 T C 0.01 0.01 0.0 0.0 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0400775321 NA 2.28E-07 mr1058 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
vg0400775321 NA 2.06E-08 mr1398 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
vg0400775321 NA 6.01E-06 mr1468 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
vg0400775321 NA 3.32E-06 mr1966_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