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Detailed information for vg0504650681:

Variant ID: vg0504650681 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 4650681
Reference Allele: CAlternative Allele: T,CTGCGTGCGTGTGTTTATAG,CTGCGTGCGTGTGTTTATA,CTGCGTGCGTGTGTTTATAGGGGTGAGTATGTGTGCGTTGTGAGTGCCTGT,CTGCGTGCGTGTGTTTATAGG
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: 117. )

Flanking Sequence (100 bp) in Reference Genome:


CTTAAGTATTTCCTTGGCCCAGTCTTTGAAGATGCTTATAAGGGTAAGGTTTGCGTGCGTGTGTTTATAGGGGTGAGTATGTGTGCGTTGTGAGTGCCTG[C/T,CTGCGTGCGTGTGTTTATAG,CTGCGTGCGTGTGTTTATA,CTGCGTGCGTGTGTTTATAGGGGTGAGTATGTGTGCGTTGTGAGTGCCTGT,CTGCGTGCGTGTGTTTATAGG]
GTTGTACTGTGTAATTAAAAAAAAAGAAAACATATGAGCAAAACTGCAGCCACAGCATCTGCCGTAAAAGGTAAGGAAGCAGGGGAGCCAAGAAAGAGCC

Reverse complement sequence

GGCTCTTTCTTGGCTCCCCTGCTTCCTTACCTTTTACGGCAGATGCTGTGGCTGCAGTTTTGCTCATATGTTTTCTTTTTTTTTAATTACACAGTACAAC[G/A,CTATAAACACACGCACGCAG,TATAAACACACGCACGCAG,ACAGGCACTCACAACGCACACATACTCACCCCTATAAACACACGCACGCAG,CCTATAAACACACGCACGCAG]
CAGGCACTCACAACGCACACATACTCACCCCTATAAACACACGCACGCAAACCTTACCCTTATAAGCATCTTCAAAGACTGGGCCAAGGAAATACTTAAG

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 92.50% 4.20% 3.22% 0.00% CTGCGTGCGTGTGTTTATAG: 0.02%; CTGCGTGCGTGTGTTTATAGGGGTGAGTATGTGTGCGTTGTGAGTGCCTGT: 0.02%
All Indica  2759 87.70% 7.20% 5.15% 0.00% NA
All Japonica  1512 99.40% 0.10% 0.40% 0.00% CTGCGTGCGTGTGTTTATAGGGGTGAGTATGTGTGCGTTGTGAGTGCCTGT: 0.07%; CTGCGTGCGTGTGTTTATAG: 0.07%
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 89.70% 2.20% 8.07% 0.00% NA
Indica II  465 83.40% 8.00% 8.60% 0.00% NA
Indica III  913 90.70% 8.90% 0.44% 0.00% NA
Indica Intermediate  786 85.10% 8.50% 6.36% 0.00% NA
Temperate Japonica  767 99.60% 0.10% 0.13% 0.00% CTGCGTGCGTGTGTTTATAG: 0.13%
Tropical Japonica  504 98.80% 0.00% 0.99% 0.00% CTGCGTGCGTGTGTTTATAGGGGTGAGTATGTGTGCGTTGTGAGTGCCTGT: 0.20%
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 95.60% 1.10% 3.33% 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
vg0504650681 C -> CTGCGTGCGTGTGTTTATA LOC_Os05g08530.1 upstream_gene_variant ; 2544.0bp to feature; MODIFIER N Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> CTGCGTGCGTGTGTTTATA LOC_Os05g08510-LOC_Os05g08530 intergenic_region ; MODIFIER N Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> T LOC_Os05g08530.1 upstream_gene_variant ; 2545.0bp to feature; MODIFIER silent_mutation Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> T LOC_Os05g08510-LOC_Os05g08530 intergenic_region ; MODIFIER silent_mutation Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> CTGCGTGCGTGTGTTTATAGGGGTGAGTAT GTGTGCGTTGTGAGTGCCTGT LOC_Os05g08530.1 upstream_gene_variant ; 2544.0bp to feature; MODIFIER silent_mutation Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> CTGCGTGCGTGTGTTTATAGGGGTGAGTAT GTGTGCGTTGTGAGTGCCTGT LOC_Os05g08510-LOC_Os05g08530 intergenic_region ; MODIFIER silent_mutation Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> CTGCGTGCGTGTGTTTATAGG LOC_Os05g08530.1 upstream_gene_variant ; 2544.0bp to feature; MODIFIER N Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> CTGCGTGCGTGTGTTTATAGG LOC_Os05g08510-LOC_Os05g08530 intergenic_region ; MODIFIER N Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> CTGCGTGCGTGTGTTTATAG LOC_Os05g08530.1 upstream_gene_variant ; 2544.0bp to feature; MODIFIER silent_mutation Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 N N N N
vg0504650681 C -> CTGCGTGCGTGTGTTTATAG LOC_Os05g08510-LOC_Os05g08530 intergenic_region ; MODIFIER silent_mutation Average:89.723; most accessible tissue: Zhenshan97 flower, score: 97.276 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)
vg0504650681 C CTGCG* 0.18 -0.06 -0.03 0.02 -0.17 -0.32
vg0504650681 C T -0.01 0.01 0.0 -0.02 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0504650681 8.44E-06 8.44E-06 mr1275 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
vg0504650681 4.60E-07 4.60E-07 mr1302 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
vg0504650681 8.04E-06 8.04E-06 mr1315 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
vg0504650681 3.73E-07 9.75E-07 mr1352 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
vg0504650681 1.97E-06 1.84E-06 mr1418 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
vg0504650681 9.91E-07 9.91E-07 mr1420 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
vg0504650681 2.07E-06 2.07E-06 mr1488 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
vg0504650681 3.78E-06 3.78E-06 mr1756 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
vg0504650681 6.93E-08 6.93E-08 mr1764 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
vg0504650681 3.32E-06 3.32E-06 mr1809 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
vg0504650681 3.44E-06 3.44E-06 mr1814 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
vg0504650681 2.58E-06 2.42E-06 mr1816 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
vg0504650681 3.80E-06 3.80E-06 mr1823 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
vg0504650681 1.60E-06 1.60E-06 mr1886 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