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Detailed information for vg0502914537:

Variant ID: vg0502914537 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 2914537
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.01, others allele: 0.00, population size: 336. )

Flanking Sequence (100 bp) in Reference Genome:


CTTGAACATTCAGGCACACTCTTGACGATTGGGTTCTGAACTTCTGATTCTTCAGAACTGCAAAAGTGAGCTTTGAACAGTTCATCACCTCTCAGCTGCA[T/C]
TCTGAAGATTGAGTATTATGGTCATAAAACTCATTGTATGGATCTTCTTGACAGAGAGAAAAATTCAGTTTGTCATCAACATTCAGGCACAATCTGAAGA

Reverse complement sequence

TCTTCAGATTGTGCCTGAATGTTGATGACAAACTGAATTTTTCTCTCTGTCAAGAAGATCCATACAATGAGTTTTATGACCATAATACTCAATCTTCAGA[A/G]
TGCAGCTGAGAGGTGATGAACTGTTCAAAGCTCACTTTTGCAGTTCTGAAGAATCAGAAGTTCAGAACCCAATCGTCAAGAGTGTGCCTGAATGTTCAAG

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 86.50% 12.20% 1.33% 0.00% NA
All Indica  2759 99.50% 0.50% 0.00% 0.00% NA
All Japonica  1512 60.00% 36.00% 4.03% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 98.30% 1.70% 0.00% 0.00% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 99.70% 0.30% 0.00% 0.00% NA
Temperate Japonica  767 31.00% 62.60% 6.39% 0.00% NA
Tropical Japonica  504 98.00% 1.40% 0.60% 0.00% NA
Japonica Intermediate  241 72.60% 23.70% 3.73% 0.00% NA
VI/Aromatic  96 94.80% 5.20% 0.00% 0.00% NA
Intermediate  90 83.30% 14.40% 2.22% 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
vg0502914537 T -> C LOC_Os05g05810.1 upstream_gene_variant ; 757.0bp to feature; MODIFIER silent_mutation Average:84.491; most accessible tissue: Zhenshan97 flower, score: 94.54 N N N N
vg0502914537 T -> C LOC_Os05g05820.1 upstream_gene_variant ; 1464.0bp to feature; MODIFIER silent_mutation Average:84.491; most accessible tissue: Zhenshan97 flower, score: 94.54 N N N N
vg0502914537 T -> C LOC_Os05g05810.2 upstream_gene_variant ; 763.0bp to feature; MODIFIER silent_mutation Average:84.491; most accessible tissue: Zhenshan97 flower, score: 94.54 N N N N
vg0502914537 T -> C LOC_Os05g05810-LOC_Os05g05820 intergenic_region ; MODIFIER silent_mutation Average:84.491; most accessible tissue: Zhenshan97 flower, score: 94.54 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)
vg0502914537 T C 0.03 0.02 0.03 0.03 0.05 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0502914537 NA 2.46E-08 mr1549 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
vg0502914537 NA 2.02E-06 mr1043_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
vg0502914537 NA 7.39E-06 mr1129_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
vg0502914537 NA 3.33E-12 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
vg0502914537 NA 2.10E-07 mr1502_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
vg0502914537 1.94E-06 NA mr1549_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
vg0502914537 NA 1.36E-06 mr1549_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
vg0502914537 NA 4.94E-06 mr1577_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
vg0502914537 NA 5.97E-26 mr1588_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
vg0502914537 NA 1.11E-07 mr1588_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
vg0502914537 NA 4.07E-09 mr1624_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
vg0502914537 NA 2.45E-08 mr1746_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
vg0502914537 NA 1.04E-06 mr1757_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
vg0502914537 NA 9.11E-06 mr1957_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