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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0205996999:

Variant ID: vg0205996999 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 5996999
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGCGGCTGGAAGGCGTCGGCGACGTCGGCGGCTAGGGCTACGCGGCGGCGGCGCTACGGACGATGGCTCGGCTTGGGACTTGAGGCAAACGGAAGAGGAC[G/A]
GCTAGGGGATGCTATTTATAGCCGGAAGAGGGAGAGATCGGCTCGGGAACGGATGGAATCGGCGACGGATTAGTTTGGGTTCGCCGGAAAATAGGAACTC

Reverse complement sequence

GAGTTCCTATTTTCCGGCGAACCCAAACTAATCCGTCGCCGATTCCATCCGTTCCCGAGCCGATCTCTCCCTCTTCCGGCTATAAATAGCATCCCCTAGC[C/T]
GTCCTCTTCCGTTTGCCTCAAGTCCCAAGCCGAGCCATCGTCCGTAGCGCCGCCGCCGCGTAGCCCTAGCCGCCGACGTCGCCGACGCCTTCCAGCCGCG

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 58.20% 1.60% 8.78% 31.42% NA
All Indica  2759 38.10% 2.60% 13.48% 45.81% NA
All Japonica  1512 97.80% 0.00% 0.46% 1.72% NA
Aus  269 31.60% 0.40% 10.41% 57.62% NA
Indica I  595 39.30% 1.50% 10.59% 48.57% NA
Indica II  465 37.00% 0.90% 11.83% 50.32% NA
Indica III  913 36.70% 3.30% 17.85% 42.17% NA
Indica Intermediate  786 39.30% 3.80% 11.58% 45.29% NA
Temperate Japonica  767 98.00% 0.00% 0.26% 1.69% NA
Tropical Japonica  504 98.20% 0.00% 0.79% 0.99% NA
Japonica Intermediate  241 96.30% 0.00% 0.41% 3.32% NA
VI/Aromatic  96 81.20% 0.00% 4.17% 14.58% NA
Intermediate  90 66.70% 0.00% 4.44% 28.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205996999 G -> A LOC_Os02g11665.1 3_prime_UTR_variant ; 1079.0bp to feature; MODIFIER silent_mutation Average:79.791; most accessible tissue: Zhenshan97 flag leaf, score: 93.831 N N N N
vg0205996999 G -> A LOC_Os02g11660.1 upstream_gene_variant ; 3926.0bp to feature; MODIFIER silent_mutation Average:79.791; most accessible tissue: Zhenshan97 flag leaf, score: 93.831 N N N N
vg0205996999 G -> DEL N N silent_mutation Average:79.791; most accessible tissue: Zhenshan97 flag leaf, score: 93.831 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)
vg0205996999 G A 0.02 0.01 0.03 0.01 0.04 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0205996999 NA 1.48E-07 mr1238 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
vg0205996999 NA 5.35E-07 mr1309 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
vg0205996999 NA 1.94E-08 mr1841 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
vg0205996999 3.02E-07 3.02E-07 mr1900 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
vg0205996999 NA 4.00E-08 mr1238_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
vg0205996999 NA 1.72E-06 mr1484_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
vg0205996999 NA 4.33E-09 mr1841_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
vg0205996999 NA 2.10E-07 mr1900_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