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Search for Variation information by Variation ID:

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

Detailed information for vg1003397297:

Variant ID: vg1003397297 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 3397297
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.94, C: 0.04, others allele: 0.00, population size: 53. )

Flanking Sequence (100 bp) in Reference Genome:


TTCTATGGTAGAACTGTAAGGTGGTAGATAGGTGTTGCCGACAAGGTCGATTTGACGAGGACCTCCGGGCTAGCCGATGTGAAAAATCTGCCCTTCCAAC[T/C]
CGGTATTCTCAATCTTATCTTATCCACTAACGGTTGTAGATCAACTTTCATCAGTTTTATGGTGTGAAGCAGCAAACTGAGATATTTGCGAGGGAATGAC

Reverse complement sequence

GTCATTCCCTCGCAAATATCTCAGTTTGCTGCTTCACACCATAAAACTGATGAAAGTTGATCTACAACCGTTAGTGGATAAGATAAGATTGAGAATACCG[A/G]
GTTGGAAGGGCAGATTTTTCACATCGGCTAGCCCGGAGGTCCTCGTCAAATCGACCTTGTCGGCAACACCTATCTACCACCTTACAGTTCTACCATAGAA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.20% 24.40% 0.36% 0.13% NA
All Indica  2759 60.70% 38.50% 0.58% 0.22% NA
All Japonica  1512 97.40% 2.60% 0.00% 0.00% NA
Aus  269 96.70% 3.30% 0.00% 0.00% NA
Indica I  595 55.10% 43.50% 1.18% 0.17% NA
Indica II  465 74.20% 24.30% 0.65% 0.86% NA
Indica III  913 49.90% 49.70% 0.33% 0.00% NA
Indica Intermediate  786 69.60% 29.90% 0.38% 0.13% NA
Temperate Japonica  767 99.60% 0.40% 0.00% 0.00% NA
Tropical Japonica  504 93.30% 6.70% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.80% 0.00% 0.00% NA
VI/Aromatic  96 72.90% 27.10% 0.00% 0.00% NA
Intermediate  90 81.10% 17.80% 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
vg1003397297 T -> C LOC_Os10g06580.1 upstream_gene_variant ; 2283.0bp to feature; MODIFIER silent_mutation Average:88.641; most accessible tissue: Callus, score: 97.641 N N N N
vg1003397297 T -> C LOC_Os10g06600.1 downstream_gene_variant ; 502.0bp to feature; MODIFIER silent_mutation Average:88.641; most accessible tissue: Callus, score: 97.641 N N N N
vg1003397297 T -> C LOC_Os10g06580-LOC_Os10g06600 intergenic_region ; MODIFIER silent_mutation Average:88.641; most accessible tissue: Callus, score: 97.641 N N N N
vg1003397297 T -> DEL N N silent_mutation Average:88.641; most accessible tissue: Callus, score: 97.641 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)
vg1003397297 T C 0.03 0.03 0.02 0.04 0.03 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1003397297 2.01E-10 NA mr1538 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
vg1003397297 2.92E-10 9.71E-13 mr1538 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
vg1003397297 1.08E-17 2.00E-22 mr1547 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
vg1003397297 9.27E-16 7.50E-22 mr1547 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
vg1003397297 8.82E-48 2.42E-57 mr1709 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
vg1003397297 2.48E-44 2.94E-71 mr1709 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
vg1003397297 1.38E-13 NA mr1538_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
vg1003397297 6.11E-14 1.09E-20 mr1538_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
vg1003397297 1.48E-21 5.64E-27 mr1547_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
vg1003397297 3.76E-21 2.07E-29 mr1547_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
vg1003397297 6.82E-70 2.16E-99 mr1709_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
vg1003397297 5.27E-59 1.85E-112 mr1709_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