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Detailed information for vg0335766881:

Variant ID: vg0335766881 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 35766881
Reference Allele: TAGCAlternative Allele: CAGC,T
Primary Allele: TAGCSecondary Allele: CAGC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TATATGACTTATGTTTTTTATTTTTTAAAAATGTTTAAATAAAATAAATTGGACACAGAAACTCACGACTGTATTTATTTTGGAACGAAGTTAGCAGTAG[TAGC/CAGC,T]
AGCAGCAGTCGTCGTCTTGGTACAGTGCGTACACGTCTCGATCTATATTAGTTTAGCACTCTGCCCGCTGCAGAGACTTAGCTCGATCGATCAATTCATC

Reverse complement sequence

GATGAATTGATCGATCGAGCTAAGTCTCTGCAGCGGGCAGAGTGCTAAACTAATATAGATCGAGACGTGTACGCACTGTACCAAGACGACGACTGCTGCT[GCTA/GCTG,A]
CTACTGCTAACTTCGTTCCAAAATAAATACAGTCGTGAGTTTCTGTGTCCAATTTATTTTATTTAAACATTTTTAAAAAATAAAAAACATAAGTCATATA

Allele Frequencies:

Populations Population SizeFrequency of TAGC(primary allele) Frequency of CAGC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 50.80% 48.00% 0.93% 0.00% T: 0.19%
All Indica  2759 27.40% 70.90% 1.45% 0.00% T: 0.29%
All Japonica  1512 95.90% 3.80% 0.20% 0.00% T: 0.07%
Aus  269 19.70% 80.30% 0.00% 0.00% NA
Indica I  595 8.20% 91.30% 0.50% 0.00% NA
Indica II  465 17.40% 76.10% 5.59% 0.00% T: 0.86%
Indica III  913 43.90% 56.10% 0.00% 0.00% NA
Indica Intermediate  786 28.50% 69.60% 1.40% 0.00% T: 0.51%
Temperate Japonica  767 95.40% 4.00% 0.39% 0.00% T: 0.13%
Tropical Japonica  504 95.40% 4.60% 0.00% 0.00% NA
Japonica Intermediate  241 98.30% 1.70% 0.00% 0.00% NA
VI/Aromatic  96 94.80% 4.20% 1.04% 0.00% NA
Intermediate  90 60.00% 40.00% 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
vg0335766881 TAGC -> T LOC_Os03g63280.1 upstream_gene_variant ; 48.0bp to feature; MODIFIER silent_mutation Average:79.109; most accessible tissue: Zhenshan97 flower, score: 94.492 N N N N
vg0335766881 TAGC -> T LOC_Os03g63290.1 downstream_gene_variant ; 2886.0bp to feature; MODIFIER silent_mutation Average:79.109; most accessible tissue: Zhenshan97 flower, score: 94.492 N N N N
vg0335766881 TAGC -> T LOC_Os03g63270-LOC_Os03g63280 intergenic_region ; MODIFIER silent_mutation Average:79.109; most accessible tissue: Zhenshan97 flower, score: 94.492 N N N N
vg0335766881 TAGC -> CAGC LOC_Os03g63280.1 upstream_gene_variant ; 49.0bp to feature; MODIFIER silent_mutation Average:79.109; most accessible tissue: Zhenshan97 flower, score: 94.492 N N N N
vg0335766881 TAGC -> CAGC LOC_Os03g63290.1 downstream_gene_variant ; 2887.0bp to feature; MODIFIER silent_mutation Average:79.109; most accessible tissue: Zhenshan97 flower, score: 94.492 N N N N
vg0335766881 TAGC -> CAGC LOC_Os03g63270-LOC_Os03g63280 intergenic_region ; MODIFIER silent_mutation Average:79.109; most accessible tissue: Zhenshan97 flower, score: 94.492 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)
vg0335766881 TAGC CAGC -0.14 -0.07 -0.06 -0.03 -0.07 -0.05
vg0335766881 TAGC T 0.17 0.31 0.35 0.0 0.09 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0335766881 NA 4.81E-06 mr1120 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
vg0335766881 NA 2.54E-06 mr1761 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
vg0335766881 NA 1.33E-08 mr1770 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
vg0335766881 3.57E-06 2.27E-08 mr1961 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