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Detailed information for vg0722131045:

Variant ID: vg0722131045 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 22131045
Reference Allele: CAlternative Allele: A,T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTATCTATACCAAAGGATGGAATTTTTTTCGGTTTTAGATTTTTTTTAAAAAATATTTACAGAAATAATCTATCGGCCAAAAAAAATTACAAAAATAGAC[C/A,T]
CTGCCGCCCACCTCTGGGGCGGCAAGCTGACGTGGCAAACGGGGGAGGAACGGGCGGTGACGGAGGGAGGGTTTTTTGCAGGAAAACCCTTGCCGCCCTC

Reverse complement sequence

GAGGGCGGCAAGGGTTTTCCTGCAAAAAACCCTCCCTCCGTCACCGCCCGTTCCTCCCCCGTTTGCCACGTCAGCTTGCCGCCCCAGAGGTGGGCGGCAG[G/T,A]
GTCTATTTTTGTAATTTTTTTTGGCCGATAGATTATTTCTGTAAATATTTTTTAAAAAAAATCTAAAACCGAAAAAAATTCCATCCTTTGGTATAGATAG

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 82.40% 0.30% 0.99% 16.08% A: 0.15%
All Indica  2759 73.80% 0.60% 0.72% 24.79% A: 0.07%
All Japonica  1512 95.80% 0.00% 0.33% 3.64% A: 0.26%
Aus  269 87.40% 0.00% 7.43% 5.20% NA
Indica I  595 63.70% 0.50% 0.34% 35.46% NA
Indica II  465 65.80% 0.40% 0.65% 33.12% NA
Indica III  913 80.00% 0.80% 0.99% 18.07% A: 0.22%
Indica Intermediate  786 79.10% 0.50% 0.76% 19.59% NA
Temperate Japonica  767 98.80% 0.00% 0.13% 1.04% NA
Tropical Japonica  504 91.90% 0.00% 0.79% 6.75% A: 0.60%
Japonica Intermediate  241 94.20% 0.00% 0.00% 5.39% A: 0.41%
VI/Aromatic  96 99.00% 0.00% 0.00% 0.00% A: 1.04%
Intermediate  90 90.00% 0.00% 2.22% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0722131045 C -> DEL N N silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> A LOC_Os07g36970.1 upstream_gene_variant ; 592.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> A LOC_Os07g36950.1 downstream_gene_variant ; 3121.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> A LOC_Os07g36960.1 downstream_gene_variant ; 647.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> A LOC_Os07g36960.2 downstream_gene_variant ; 642.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> A LOC_Os07g36960-LOC_Os07g36970 intergenic_region ; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> T LOC_Os07g36970.1 upstream_gene_variant ; 592.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> T LOC_Os07g36950.1 downstream_gene_variant ; 3121.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> T LOC_Os07g36960.1 downstream_gene_variant ; 647.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> T LOC_Os07g36960.2 downstream_gene_variant ; 642.0bp to feature; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 N N N N
vg0722131045 C -> T LOC_Os07g36960-LOC_Os07g36970 intergenic_region ; MODIFIER silent_mutation Average:93.705; most accessible tissue: Zhenshan97 panicle, score: 97.577 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)
vg0722131045 C A -0.05 -0.04 -0.02 -0.04 -0.04 -0.04
vg0722131045 C T -0.02 -0.02 -0.01 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0722131045 1.83E-06 1.83E-06 mr1335_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