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Detailed information for vg1120813456:

Variant ID: vg1120813456 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 20813456
Reference Allele: GAlternative Allele: A,C
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTAATTAAGTATTAGTCATTTTTAATAGATTAATATGATTTTTTTTAAAACAACTTTTATATAAAATTTATTTATTTTGAAAAAACCGCACTGTTTAATA[G/A,C]
TTTAAGAAGAGTGCGCGCAAGTGAGTTGGGAAAGAAGGGCGAGGAACATAGCCTATCGTTTAATTAACAGTTTGATTGGATAGCTACACCGACCGACGAT

Reverse complement sequence

ATCGTCGGTCGGTGTAGCTATCCAATCAAACTGTTAATTAAACGATAGGCTATGTTCCTCGCCCTTCTTTCCCAACTCACTTGCGCGCACTCTTCTTAAA[C/T,G]
TATTAAACAGTGCGGTTTTTTCAAAATAAATAAATTTTATATAAAAGTTGTTTTAAAAAAAATCATATTAATCTATTAAAAATGACTAATACTTAATTAA

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 96.20% 0.20% 0.21% 3.39% NA
All Indica  2759 94.10% 0.10% 0.33% 5.40% NA
All Japonica  1512 99.50% 0.30% 0.07% 0.07% NA
Aus  269 97.40% 0.00% 0.00% 2.60% NA
Indica I  595 95.10% 0.20% 0.00% 4.71% NA
Indica II  465 97.20% 0.20% 0.22% 2.37% NA
Indica III  913 90.30% 0.10% 0.66% 8.98% NA
Indica Intermediate  786 96.10% 0.10% 0.25% 3.56% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 98.60% 1.00% 0.20% 0.20% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 97.80% 0.00% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1120813456 G -> A LOC_Os11g35510.1 downstream_gene_variant ; 1319.0bp to feature; MODIFIER silent_mutation Average:82.388; most accessible tissue: Callus, score: 94.06 N N N N
vg1120813456 G -> A LOC_Os11g35510-LOC_Os11g35520 intergenic_region ; MODIFIER silent_mutation Average:82.388; most accessible tissue: Callus, score: 94.06 N N N N
vg1120813456 G -> DEL N N silent_mutation Average:82.388; most accessible tissue: Callus, score: 94.06 N N N N
vg1120813456 G -> C LOC_Os11g35510.1 downstream_gene_variant ; 1319.0bp to feature; MODIFIER N Average:82.388; most accessible tissue: Callus, score: 94.06 N N N N
vg1120813456 G -> C LOC_Os11g35510-LOC_Os11g35520 intergenic_region ; MODIFIER N Average:82.388; most accessible tissue: Callus, score: 94.06 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)
vg1120813456 G A -0.1 -0.06 -0.05 -0.07 -0.07 -0.05
vg1120813456 G C -0.01 0.01 0.0 0.0 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1120813456 NA 2.50E-09 Heading_date Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg1120813456 NA 3.01E-06 mr1910 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
vg1120813456 NA 9.05E-07 mr1170_2 Ind_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
vg1120813456 NA 1.46E-06 mr1742_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