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Detailed information for vg1107414104:

Variant ID: vg1107414104 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 7414104
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TATGATTGTATTCTCAAGGTTTTCTTGTACTCTCATATTTTTTAAGAGTGAGTTGCATATTGGGCTAGTTATTATTGCTAAAGTTTCACTTTGGGCTATG[A/G]
CACATCTCATGTTTTCACTTTAGCACAGGGTTTTTTACCTTTAGTTCCATACTAGACAACCCTATCTTCAACGTCTCCTACTTGTTCCAACTCAGTCACT

Reverse complement sequence

AGTGACTGAGTTGGAACAAGTAGGAGACGTTGAAGATAGGGTTGTCTAGTATGGAACTAAAGGTAAAAAACCCTGTGCTAAAGTGAAAACATGAGATGTG[T/C]
CATAGCCCAAAGTGAAACTTTAGCAATAATAACTAGCCCAATATGCAACTCACTCTTAAAAAATATGAGAGTACAAGAAAACCTTGAGAATACAATCATA

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 61.00% 35.80% 0.87% 2.37% NA
All Indica  2759 95.30% 3.40% 0.62% 0.72% NA
All Japonica  1512 5.80% 90.10% 0.53% 3.57% NA
Aus  269 42.80% 39.80% 4.83% 12.64% NA
Indica I  595 95.80% 2.50% 1.18% 0.50% NA
Indica II  465 99.10% 0.40% 0.00% 0.43% NA
Indica III  913 96.90% 2.20% 0.11% 0.77% NA
Indica Intermediate  786 90.60% 7.30% 1.15% 1.02% NA
Temperate Japonica  767 3.70% 95.20% 0.13% 1.04% NA
Tropical Japonica  504 8.30% 87.70% 1.19% 2.78% NA
Japonica Intermediate  241 7.50% 78.80% 0.41% 13.28% NA
VI/Aromatic  96 2.10% 96.90% 0.00% 1.04% NA
Intermediate  90 55.60% 37.80% 3.33% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1107414104 A -> DEL N N silent_mutation Average:68.61; most accessible tissue: Minghui63 flower, score: 85.291 N N N N
vg1107414104 A -> G LOC_Os11g13520.1 upstream_gene_variant ; 867.0bp to feature; MODIFIER silent_mutation Average:68.61; most accessible tissue: Minghui63 flower, score: 85.291 N N N N
vg1107414104 A -> G LOC_Os11g13520-LOC_Os11g13530 intergenic_region ; MODIFIER silent_mutation Average:68.61; most accessible tissue: Minghui63 flower, score: 85.291 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)
vg1107414104 A G 0.01 0.01 0.01 0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1107414104 NA 2.91E-18 mr1552 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
vg1107414104 7.60E-06 7.60E-06 mr1173_2 Ind_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
vg1107414104 NA 2.27E-08 mr1940_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