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Detailed information for vg0721054102:

Variant ID: vg0721054102 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 21054102
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAATATTATCTGTCAAACTAGGATCTTGATGACTATATGAAAATTCAAAAACACTATATTTTAAAATAGAGAGGGTAAGTTGTAACTGATGTGAACTCTT[A/G]
TTTTAATATGAACAGCCTTGAAAGTAAACAACACGTTTAAAATACTACTAAAATATTAATATCTAGCAATAGCATGTGCAACCCAAAGGTTACGAATCTT

Reverse complement sequence

AAGATTCGTAACCTTTGGGTTGCACATGCTATTGCTAGATATTAATATTTTAGTAGTATTTTAAACGTGTTGTTTACTTTCAAGGCTGTTCATATTAAAA[T/C]
AAGAGTTCACATCAGTTACAACTTACCCTCTCTATTTTAAAATATAGTGTTTTTGAATTTTCATATAGTCATCAAGATCCTAGTTTGACAGATAATATTT

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% 38.90% 0.08% 0.00% NA
All Indica  2759 88.50% 11.40% 0.11% 0.00% NA
All Japonica  1512 11.20% 88.80% 0.07% 0.00% NA
Aus  269 82.90% 17.10% 0.00% 0.00% NA
Indica I  595 98.00% 1.80% 0.17% 0.00% NA
Indica II  465 80.60% 19.40% 0.00% 0.00% NA
Indica III  913 85.00% 15.00% 0.00% 0.00% NA
Indica Intermediate  786 89.90% 9.80% 0.25% 0.00% NA
Temperate Japonica  767 6.10% 93.90% 0.00% 0.00% NA
Tropical Japonica  504 18.10% 81.70% 0.20% 0.00% NA
Japonica Intermediate  241 12.90% 87.10% 0.00% 0.00% NA
VI/Aromatic  96 12.50% 87.50% 0.00% 0.00% NA
Intermediate  90 44.40% 55.60% 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
vg0721054102 A -> G LOC_Os07g35150.1 upstream_gene_variant ; 2151.0bp to feature; MODIFIER silent_mutation Average:75.814; most accessible tissue: Zhenshan97 root, score: 96.367 N N N N
vg0721054102 A -> G LOC_Os07g35160.1 upstream_gene_variant ; 351.0bp to feature; MODIFIER silent_mutation Average:75.814; most accessible tissue: Zhenshan97 root, score: 96.367 N N N N
vg0721054102 A -> G LOC_Os07g35140.1 downstream_gene_variant ; 3616.0bp to feature; MODIFIER silent_mutation Average:75.814; most accessible tissue: Zhenshan97 root, score: 96.367 N N N N
vg0721054102 A -> G LOC_Os07g35170.1 downstream_gene_variant ; 4381.0bp to feature; MODIFIER silent_mutation Average:75.814; most accessible tissue: Zhenshan97 root, score: 96.367 N N N N
vg0721054102 A -> G LOC_Os07g35140.2 downstream_gene_variant ; 4705.0bp to feature; MODIFIER silent_mutation Average:75.814; most accessible tissue: Zhenshan97 root, score: 96.367 N N N N
vg0721054102 A -> G LOC_Os07g35150-LOC_Os07g35160 intergenic_region ; MODIFIER silent_mutation Average:75.814; most accessible tissue: Zhenshan97 root, score: 96.367 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)
vg0721054102 A G -0.02 -0.01 -0.01 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0721054102 1.71E-07 1.71E-07 mr1200 Jap_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
vg0721054102 NA 1.18E-14 mr1276 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
vg0721054102 NA 6.81E-10 mr1595 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
vg0721054102 NA 1.27E-06 mr1781 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
vg0721054102 NA 5.73E-15 mr1874 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
vg0721054102 NA 9.11E-09 mr1660_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
vg0721054102 NA 6.06E-07 mr1861_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