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Detailed information for vg1106885476:

Variant ID: vg1106885476 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 6885476
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAGATAACTATTGTATATGAATTGGTTATTAAATTGACTATAGTTGATTTGAAGCTAATAGTTGGCTATACTATTAAACTTGCTCTAAAGAGGCTATCTG[A/G]
CCATGTGCTCTGTGTGACATGGCAGTCCTGAGACTCCTGAGCACTACGAGAATCGTTTGCTCTGAACTGAATGTGTATGTATCCCCATACTCAACAAACA

Reverse complement sequence

TGTTTGTTGAGTATGGGGATACATACACATTCAGTTCAGAGCAAACGATTCTCGTAGTGCTCAGGAGTCTCAGGACTGCCATGTCACACAGAGCACATGG[T/C]
CAGATAGCCTCTTTAGAGCAAGTTTAATAGTATAGCCAACTATTAGCTTCAAATCAACTATAGTCAATTTAATAACCAATTCATATACAATAGTTATCTA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 63.50% 31.70% 0.91% 3.94% NA
All Indica  2759 82.30% 13.70% 0.80% 3.15% NA
All Japonica  1512 27.10% 65.80% 1.19% 5.95% NA
Aus  269 94.80% 4.50% 0.00% 0.74% NA
Indica I  595 82.40% 8.10% 0.17% 9.41% NA
Indica II  465 95.30% 3.70% 0.65% 0.43% NA
Indica III  913 77.10% 20.70% 1.42% 0.77% NA
Indica Intermediate  786 80.80% 15.80% 0.64% 2.80% NA
Temperate Japonica  767 26.50% 73.10% 0.39% 0.00% NA
Tropical Japonica  504 29.40% 55.40% 1.39% 13.89% NA
Japonica Intermediate  241 24.10% 64.30% 3.32% 8.30% NA
VI/Aromatic  96 12.50% 85.40% 1.04% 1.04% NA
Intermediate  90 58.90% 32.20% 2.22% 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
vg1106885476 A -> DEL N N silent_mutation Average:93.753; most accessible tissue: Zhenshan97 flag leaf, score: 96.856 N N N N
vg1106885476 A -> G LOC_Os11g12340.1 upstream_gene_variant ; 2581.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Zhenshan97 flag leaf, score: 96.856 N N N N
vg1106885476 A -> G LOC_Os11g12340.2 upstream_gene_variant ; 4388.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Zhenshan97 flag leaf, score: 96.856 N N N N
vg1106885476 A -> G LOC_Os11g12330.1 downstream_gene_variant ; 531.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Zhenshan97 flag leaf, score: 96.856 N N N N
vg1106885476 A -> G LOC_Os11g12330-LOC_Os11g12340 intergenic_region ; MODIFIER silent_mutation Average:93.753; most accessible tissue: Zhenshan97 flag leaf, score: 96.856 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)
vg1106885476 A G 0.0 0.0 0.01 0.0 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1106885476 1.54E-06 NA mr1566_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
vg1106885476 6.18E-06 NA mr1567_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
vg1106885476 1.31E-06 1.02E-06 mr1567_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
vg1106885476 NA 9.41E-06 mr1982_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