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Detailed information for vg1121146057:

Variant ID: vg1121146057 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 21146057
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 254. )

Flanking Sequence (100 bp) in Reference Genome:


GTGCCACGGGAACGGGACGCCCTTCTGGCCTTCAAGCGAGACATCACTAGCGACCACTTAGGACTTCTCACCTCGTGGAGGCAAGATGACCATGACTGCT[A/G]
CCGGTGGAGAGGCATAACCTGTAGCAACCTCACCGGCCATGTCCTCAAGCTTCACCTCAGTGGCATATACACTAATGAGCATACAGGTATGGAAGGTTTG

Reverse complement sequence

CAAACCTTCCATACCTGTATGCTCATTAGTGTATATGCCACTGAGGTGAAGCTTGAGGACATGGCCGGTGAGGTTGCTACAGGTTATGCCTCTCCACCGG[T/C]
AGCAGTCATGGTCATCTTGCCTCCACGAGGTGAGAAGTCCTAAGTGGTCGCTAGTGATGTCTCGCTTGAAGGCCAGAAGGGCGTCCCGTTCCCGTGGCAC

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 69.10% 20.90% 0.59% 9.39% NA
All Indica  2759 76.40% 8.40% 0.83% 14.39% NA
All Japonica  1512 52.20% 46.80% 0.26% 0.79% NA
Aus  269 79.20% 11.90% 0.00% 8.92% NA
Indica I  595 74.50% 21.80% 0.34% 3.36% NA
Indica II  465 72.50% 6.20% 3.01% 18.28% NA
Indica III  913 80.60% 1.00% 0.33% 18.07% NA
Indica Intermediate  786 75.30% 8.00% 0.51% 16.16% NA
Temperate Japonica  767 23.20% 75.20% 0.52% 1.04% NA
Tropical Japonica  504 93.30% 6.30% 0.00% 0.40% NA
Japonica Intermediate  241 58.50% 40.70% 0.00% 0.83% NA
VI/Aromatic  96 96.90% 0.00% 0.00% 3.12% NA
Intermediate  90 71.10% 18.90% 1.11% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1121146057 A -> DEL N N silent_mutation Average:75.573; most accessible tissue: Zhenshan97 young leaf, score: 94.392 N N N N
vg1121146057 A -> G LOC_Os11g35980.1 5_prime_UTR_premature_start_codon_gain_variant ; LOW silent_mutation Average:75.573; most accessible tissue: Zhenshan97 young leaf, score: 94.392 N N N N
vg1121146057 A -> G LOC_Os11g35980.1 5_prime_UTR_variant ; 1489.0bp to feature; MODIFIER silent_mutation Average:75.573; most accessible tissue: Zhenshan97 young leaf, score: 94.392 N N N N
vg1121146057 A -> G LOC_Os11g35970.1 upstream_gene_variant ; 4087.0bp to feature; MODIFIER silent_mutation Average:75.573; most accessible tissue: Zhenshan97 young leaf, score: 94.392 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)
vg1121146057 A G -0.03 -0.07 -0.04 -0.02 -0.04 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1121146057 9.42E-06 NA mr1586 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
vg1121146057 NA 2.08E-06 mr1629 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
vg1121146057 2.34E-09 2.34E-09 mr1703 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