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Detailed information for vg1122003053:

Variant ID: vg1122003053 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 22003053
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AATGGAAGCGGAGCTGAGTGGAGCACTCGCATAAAATAAACTAGAGAGATGTGAAGGTGGATTTAGACAACTCCACAACTTCACTACAGACCTAATTTCT[G/A]
AAGCTAAAGTTAGAAGTTAGAGCTCTATTAAACAGACCCTAAAACACAGTTGGACTAAGAAACGCTTGAAGAAAGGAAAAAAACTGCAATATCTTATTTC

Reverse complement sequence

GAAATAAGATATTGCAGTTTTTTTCCTTTCTTCAAGCGTTTCTTAGTCCAACTGTGTTTTAGGGTCTGTTTAATAGAGCTCTAACTTCTAACTTTAGCTT[C/T]
AGAAATTAGGTCTGTAGTGAAGTTGTGGAGTTGTCTAAATCCACCTTCACATCTCTCTAGTTTATTTTATGCGAGTGCTCCACTCAGCTCCGCTTCCATT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 85.90% 9.00% 0.30% 4.85% NA
All Indica  2759 91.10% 4.80% 0.22% 3.84% NA
All Japonica  1512 79.60% 17.90% 0.20% 2.38% NA
Aus  269 73.60% 1.10% 1.49% 23.79% NA
Indica I  595 94.50% 5.00% 0.17% 0.34% NA
Indica II  465 98.70% 0.90% 0.00% 0.43% NA
Indica III  913 85.80% 6.70% 0.22% 7.34% NA
Indica Intermediate  786 90.30% 4.80% 0.38% 4.45% NA
Temperate Japonica  767 96.00% 3.10% 0.26% 0.65% NA
Tropical Japonica  504 62.10% 32.70% 0.20% 4.96% NA
Japonica Intermediate  241 63.90% 33.60% 0.00% 2.49% NA
VI/Aromatic  96 76.00% 5.20% 1.04% 17.71% NA
Intermediate  90 77.80% 15.60% 0.00% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1122003053 G -> A LOC_Os11g37260.1 upstream_gene_variant ; 315.0bp to feature; MODIFIER silent_mutation Average:86.049; most accessible tissue: Callus, score: 92.754 N N N N
vg1122003053 G -> A LOC_Os11g37240.1 downstream_gene_variant ; 4535.0bp to feature; MODIFIER silent_mutation Average:86.049; most accessible tissue: Callus, score: 92.754 N N N N
vg1122003053 G -> A LOC_Os11g37250.1 downstream_gene_variant ; 1484.0bp to feature; MODIFIER silent_mutation Average:86.049; most accessible tissue: Callus, score: 92.754 N N N N
vg1122003053 G -> A LOC_Os11g37250-LOC_Os11g37260 intergenic_region ; MODIFIER silent_mutation Average:86.049; most accessible tissue: Callus, score: 92.754 N N N N
vg1122003053 G -> DEL N N silent_mutation Average:86.049; most accessible tissue: Callus, score: 92.754 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)
vg1122003053 G A 0.0 -0.01 -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
vg1122003053 3.39E-06 NA mr1698 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
vg1122003053 NA 4.28E-06 mr1698 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
vg1122003053 NA 7.46E-06 mr1428_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