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Detailed information for vg0219207534:

Variant ID: vg0219207534 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 19207534
Reference Allele: CAlternative Allele: T,G,CTTATTCCATTTGGTTATGAAAAT
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, T: 0.01, others allele: 0.00, population size: 104. )

Flanking Sequence (100 bp) in Reference Genome:


TCGGGCCGGCCATGTCGACATACTATACGTACTACAGCGACGTGCCATCTGCACCTAGAATTCGTGATGTGTACGCACTTATTCCATTTGGTTATGAAAA[C/T,G,CTTATTCCATTTGGTTATGAAAAT]
TTAGGGTGTGTTTAGTTTCACGTTAAAATTGAAAGTTTGAAGAAAAAAGTTAGAAGTTTATGTGTGTAGAAAAATTTTGATGTGATAAAAAAGTTAAAAG

Reverse complement sequence

CTTTTAACTTTTTTATCACATCAAAATTTTTCTACACACATAAACTTCTAACTTTTTTCTTCAAACTTTCAATTTTAACGTGAAACTAAACACACCCTAA[G/A,C,ATTTTCATAACCAAATGGAATAAG]
TTTTCATAACCAAATGGAATAAGTGCGTACACATCACGAATTCTAGGTGCAGATGGCACGTCGCTGTAGTACGTATAGTATGTCGACATGGCCGGCCCGA

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 48.20% 46.10% 0.21% 5.44% G: 0.06%; CTTATTCCATTTGGTTATGAAAAT: 0.02%
All Indica  2759 22.40% 74.90% 0.33% 2.25% CTTATTCCATTTGGTTATGAAAAT: 0.04%; G: 0.04%
All Japonica  1512 86.40% 2.20% 0.00% 11.31% NA
Aus  269 82.20% 17.80% 0.00% 0.00% NA
Indica I  595 37.10% 58.20% 0.17% 4.54% NA
Indica II  465 15.10% 84.50% 0.43% 0.00% NA
Indica III  913 14.00% 83.00% 0.00% 2.85% CTTATTCCATTTGGTTATGAAAAT: 0.11%
Indica Intermediate  786 25.40% 72.50% 0.76% 1.15% G: 0.13%
Temperate Japonica  767 94.00% 2.00% 0.00% 4.04% NA
Tropical Japonica  504 80.40% 1.80% 0.00% 17.86% NA
Japonica Intermediate  241 75.10% 4.10% 0.00% 20.75% NA
VI/Aromatic  96 80.20% 0.00% 0.00% 19.79% NA
Intermediate  90 57.80% 33.30% 1.11% 5.56% G: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0219207534 C -> G LOC_Os02g32469.1 upstream_gene_variant ; 3329.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> G LOC_Os02g32480.1 upstream_gene_variant ; 3810.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> G LOC_Os02g32469.2 upstream_gene_variant ; 3327.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> G LOC_Os02g32469-LOC_Os02g32480 intergenic_region ; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> T LOC_Os02g32469.1 upstream_gene_variant ; 3329.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> T LOC_Os02g32480.1 upstream_gene_variant ; 3810.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> T LOC_Os02g32469.2 upstream_gene_variant ; 3327.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> T LOC_Os02g32469-LOC_Os02g32480 intergenic_region ; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> CTTATTCCATTTGGTTATGAAAAT LOC_Os02g32469.1 upstream_gene_variant ; 3330.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> CTTATTCCATTTGGTTATGAAAAT LOC_Os02g32480.1 upstream_gene_variant ; 3809.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> CTTATTCCATTTGGTTATGAAAAT LOC_Os02g32469.2 upstream_gene_variant ; 3328.0bp to feature; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> CTTATTCCATTTGGTTATGAAAAT LOC_Os02g32469-LOC_Os02g32480 intergenic_region ; MODIFIER silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 N N N N
vg0219207534 C -> DEL N N silent_mutation Average:99.005; most accessible tissue: Minghui63 root, score: 99.888 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)
vg0219207534 C CTTAT* -0.42 -0.49 -0.47 -0.52 -0.53 -0.52
vg0219207534 C G -0.01 0.03 0.01 0.01 0.03 0.04
vg0219207534 C T -0.06 -0.03 -0.02 -0.03 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0219207534 NA 3.61E-06 mr1015_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
vg0219207534 NA 9.08E-06 mr1041_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
vg0219207534 NA 1.94E-16 mr1180_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
vg0219207534 NA 2.59E-07 mr1184_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
vg0219207534 NA 1.92E-06 mr1278_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
vg0219207534 NA 1.54E-06 mr1293_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
vg0219207534 NA 9.35E-06 mr1329_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
vg0219207534 NA 1.95E-06 mr1488_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
vg0219207534 NA 4.60E-06 mr1508_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
vg0219207534 NA 3.94E-07 mr1522_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
vg0219207534 NA 7.32E-06 mr1524_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
vg0219207534 NA 5.81E-07 mr1543_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
vg0219207534 NA 3.69E-07 mr1604_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
vg0219207534 NA 5.63E-23 mr1627_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
vg0219207534 NA 3.98E-11 mr1627_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
vg0219207534 NA 3.82E-07 mr1653_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
vg0219207534 NA 4.43E-08 mr1683_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
vg0219207534 NA 3.34E-08 mr1690_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
vg0219207534 NA 9.92E-06 mr1812_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
vg0219207534 NA 6.41E-09 mr1851_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
vg0219207534 NA 1.44E-06 mr1977_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
vg0219207534 6.24E-06 6.24E-06 mr1983_2 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