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Search for Variation information by Variation ID:

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

Detailed information for vg0326411329:

Variant ID: vg0326411329 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 26411329
Reference Allele: CCTAAlternative Allele: TCTA,C
Primary Allele: CCTASecondary Allele: TCTA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CATCAGCAATGTTTACTGTAGCACTACATTGTCAAATCATGGAACAATTAGGGTGAAAGGGTGAAAATTAGTCGCAATCTATGTAATTAGTTATTTTTAG[CCTA/TCTA,C]
TATTTAATACTTCATGCAGATGTTAAACGTTTAATGTGAAAGGGTGAAAAATTTTAGGGAGGAATCTAAAGAGGGGCTTACTGCTTTGTTAGAGTGGGCA

Reverse complement sequence

TGCCCACTCTAACAAAGCAGTAAGCCCCTCTTTAGATTCCTCCCTAAAATTTTTCACCCTTTCACATTAAACGTTTAACATCTGCATGAAGTATTAAATA[TAGG/TAGA,G]
CTAAAAATAACTAATTACATAGATTGCGACTAATTTTCACCCTTTCACCCTAATTGTTCCATGATTTGACAATGTAGTGCTACAGTAAACATTGCTGATG

Allele Frequencies:

Populations Population SizeFrequency of CCTA(primary allele) Frequency of TCTA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.00% 2.00% 0.83% 1.21% C: 0.02%
All Indica  2759 95.30% 3.30% 1.38% 0.07% NA
All Japonica  1512 96.20% 0.20% 0.07% 3.51% NA
Aus  269 99.60% 0.00% 0.00% 0.00% C: 0.37%
Indica I  595 85.00% 10.10% 4.87% 0.00% NA
Indica II  465 99.80% 0.00% 0.22% 0.00% NA
Indica III  913 99.90% 0.00% 0.00% 0.11% NA
Indica Intermediate  786 94.90% 3.90% 1.02% 0.13% NA
Temperate Japonica  767 98.60% 0.00% 0.00% 1.43% NA
Tropical Japonica  504 96.80% 0.60% 0.00% 2.58% NA
Japonica Intermediate  241 87.60% 0.00% 0.41% 12.03% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% 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
vg0326411329 CCTA -> C LOC_Os03g46650.1 upstream_gene_variant ; 4786.0bp to feature; MODIFIER silent_mutation Average:74.941; most accessible tissue: Minghui63 panicle, score: 94.127 N N N N
vg0326411329 CCTA -> C LOC_Os03g46660.1 upstream_gene_variant ; 639.0bp to feature; MODIFIER silent_mutation Average:74.941; most accessible tissue: Minghui63 panicle, score: 94.127 N N N N
vg0326411329 CCTA -> C LOC_Os03g46660-LOC_Os03g46674 intergenic_region ; MODIFIER silent_mutation Average:74.941; most accessible tissue: Minghui63 panicle, score: 94.127 N N N N
vg0326411329 CCTA -> TCTA LOC_Os03g46650.1 upstream_gene_variant ; 4785.0bp to feature; MODIFIER silent_mutation Average:74.941; most accessible tissue: Minghui63 panicle, score: 94.127 N N N N
vg0326411329 CCTA -> TCTA LOC_Os03g46660.1 upstream_gene_variant ; 638.0bp to feature; MODIFIER silent_mutation Average:74.941; most accessible tissue: Minghui63 panicle, score: 94.127 N N N N
vg0326411329 CCTA -> TCTA LOC_Os03g46660-LOC_Os03g46674 intergenic_region ; MODIFIER silent_mutation Average:74.941; most accessible tissue: Minghui63 panicle, score: 94.127 N N N N
vg0326411329 CCTA -> DEL N N silent_mutation Average:74.941; most accessible tissue: Minghui63 panicle, score: 94.127 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)
vg0326411329 CCTA C -0.03 0.03 0.05 -0.01 0.0 0.0
vg0326411329 CCTA TCTA -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0326411329 NA 6.92E-10 mr1013 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
vg0326411329 NA 8.25E-08 mr1031 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
vg0326411329 NA 1.39E-07 mr1034 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
vg0326411329 NA 9.72E-08 mr1056 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
vg0326411329 NA 8.23E-06 mr1756_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