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Detailed information for vg1001393945:

Variant ID: vg1001393945 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 1393945
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGGTTAGGCTTTTTGGTCTTCTATGAGCTATATTTTAAGTGTTTATATATACCCCGGGGCCCTACGGGTCACCCTCGGGGGTGAAATGTTTTCTCCTGTC[C/T]
CCTCCCCACCCAAATACGGACCCTCCGTCCCCAATAACCCCGCGGGTTGAAAATCACACCCACCCCCGATCCCGCGGAGGAAATTGCCATCCCTAGACAA

Reverse complement sequence

TTGTCTAGGGATGGCAATTTCCTCCGCGGGATCGGGGGTGGGTGTGATTTTCAACCCGCGGGGTTATTGGGGACGGAGGGTCCGTATTTGGGTGGGGAGG[G/A]
GACAGGAGAAAACATTTCACCCCCGAGGGTGACCCGTAGGGCCCCGGGGTATATATAAACACTTAAAATATAGCTCATAGAAGACCAAAAAGCCTAACCT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 84.90% 12.60% 0.11% 2.37% NA
All Indica  2759 94.50% 1.30% 0.14% 4.06% NA
All Japonica  1512 69.90% 30.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.70% 0.30% 0.00% 1.01% NA
Indica II  465 95.50% 2.80% 0.00% 1.72% NA
Indica III  913 91.90% 0.10% 0.11% 7.89% NA
Indica Intermediate  786 93.60% 2.70% 0.38% 3.31% NA
Temperate Japonica  767 75.60% 24.40% 0.00% 0.00% NA
Tropical Japonica  504 78.40% 21.60% 0.00% 0.00% NA
Japonica Intermediate  241 34.00% 66.00% 0.00% 0.00% NA
VI/Aromatic  96 16.70% 83.30% 0.00% 0.00% NA
Intermediate  90 73.30% 25.60% 1.11% 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
vg1001393945 C -> T LOC_Os10g03300.1 upstream_gene_variant ; 1987.0bp to feature; MODIFIER silent_mutation Average:89.336; most accessible tissue: Zhenshan97 young leaf, score: 99.517 N N N N
vg1001393945 C -> T LOC_Os10g03280.1 downstream_gene_variant ; 4759.0bp to feature; MODIFIER silent_mutation Average:89.336; most accessible tissue: Zhenshan97 young leaf, score: 99.517 N N N N
vg1001393945 C -> T LOC_Os10g03290.1 downstream_gene_variant ; 2116.0bp to feature; MODIFIER silent_mutation Average:89.336; most accessible tissue: Zhenshan97 young leaf, score: 99.517 N N N N
vg1001393945 C -> T LOC_Os10g03290-LOC_Os10g03300 intergenic_region ; MODIFIER silent_mutation Average:89.336; most accessible tissue: Zhenshan97 young leaf, score: 99.517 N N N N
vg1001393945 C -> DEL N N silent_mutation Average:89.336; most accessible tissue: Zhenshan97 young leaf, score: 99.517 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)
vg1001393945 C T 0.08 0.02 0.04 -0.08 0.0 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1001393945 NA 7.75E-08 mr1174 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
vg1001393945 NA 5.16E-06 mr1174 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
vg1001393945 NA 2.55E-06 mr1304 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
vg1001393945 4.51E-07 NA mr1486 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
vg1001393945 NA 1.17E-08 mr1514 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
vg1001393945 NA 4.42E-06 mr1548 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
vg1001393945 NA 1.04E-08 mr1570 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
vg1001393945 4.17E-06 NA mr1845 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
vg1001393945 NA 6.69E-06 mr1174_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
vg1001393945 3.80E-11 NA mr1486_2 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
vg1001393945 1.11E-08 NA mr1486_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