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Detailed information for vg1110750346:

Variant ID: vg1110750346 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 10750346
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CACCGCTGTTAGACGTGATGTGGCGTCGGGCTACACAAGGCACCTTCAGTTCCCAGTGAGAGGCTTCCTCTCACAAGGGCGTAGCCAGCTAGGTGGCACC[A/G]
TGGTCCACAGACCACCTAAAAATTTGAAATTATAGTATATATGCTAGTTAATATAGTAAAAATTATATAGTTGACCACCCTTTTAATTGACATATTATAT

Reverse complement sequence

ATATAATATGTCAATTAAAAGGGTGGTCAACTATATAATTTTTACTATATTAACTAGCATATATACTATAATTTCAAATTTTTAGGTGGTCTGTGGACCA[T/C]
GGTGCCACCTAGCTGGCTACGCCCTTGTGAGAGGAAGCCTCTCACTGGGAACTGAAGGTGCCTTGTGTAGCCCGACGCCACATCACGTCTAACAGCGGTG

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 88.70% 8.80% 2.50% 0.00% NA
All Indica  2759 98.60% 0.50% 0.83% 0.00% NA
All Japonica  1512 67.50% 26.30% 6.28% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.20% 0.30% 0.50% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 99.90% 0.00% 0.11% 0.00% NA
Indica Intermediate  786 96.10% 1.50% 2.42% 0.00% NA
Temperate Japonica  767 48.00% 42.90% 9.13% 0.00% NA
Tropical Japonica  504 95.20% 2.00% 2.78% 0.00% NA
Japonica Intermediate  241 71.40% 24.10% 4.56% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 96.70% 3.30% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1110750346 A -> G LOC_Os11g18880.1 upstream_gene_variant ; 2808.0bp to feature; MODIFIER silent_mutation Average:80.125; most accessible tissue: Zhenshan97 panicle, score: 92.27 N N N N
vg1110750346 A -> G LOC_Os11g18900.1 upstream_gene_variant ; 1158.0bp to feature; MODIFIER silent_mutation Average:80.125; most accessible tissue: Zhenshan97 panicle, score: 92.27 N N N N
vg1110750346 A -> G LOC_Os11g18890.1 downstream_gene_variant ; 430.0bp to feature; MODIFIER silent_mutation Average:80.125; most accessible tissue: Zhenshan97 panicle, score: 92.27 N N N N
vg1110750346 A -> G LOC_Os11g18910.1 downstream_gene_variant ; 4208.0bp to feature; MODIFIER silent_mutation Average:80.125; most accessible tissue: Zhenshan97 panicle, score: 92.27 N N N N
vg1110750346 A -> G LOC_Os11g18890-LOC_Os11g18900 intergenic_region ; MODIFIER silent_mutation Average:80.125; most accessible tissue: Zhenshan97 panicle, score: 92.27 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)
vg1110750346 A G 0.08 0.05 0.03 0.06 0.06 0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1110750346 NA 9.84E-07 mr1183 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
vg1110750346 NA 7.54E-06 mr1503 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
vg1110750346 NA 8.91E-06 mr1708 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
vg1110750346 NA 4.00E-12 mr1002_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
vg1110750346 NA 8.90E-08 mr1002_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
vg1110750346 9.36E-06 NA mr1579_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