Search for Variation information by Variation ID:

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

Detailed information for vg0715874680:

Variant ID: vg0715874680 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 15874680
Reference Allele: CAlternative Allele: T,CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 250. )

Flanking Sequence (100 bp) in Reference Genome:


CTGTCACTCGTTTTTACGTTCCCATTCTTTTCTTTGTCCACAAGTTTCATTTTGCGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAG[C/T,CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT]
GTTTTTGCGTTCCCATCATTTTCTTTGTCCAGGGTACGTTTGGATCCGAGGCTAGATTATTTCTAGCCTTGCTCAACCAGGTTTGATGTTGGTAGAGCAA

Reverse complement sequence

TTGCTCTACCAACATCAAACCTGGTTGAGCAAGGCTAGAAATAATCTAGCCTCGGATCCAAACGTACCCTGGACAAAGAAAATGATGGGAACGCAAAAAC[G/A,ACTAAATGAAACTTGTGGACAAAGAAAATGATGGGAACGCAAAAACG]
CTAAATGAAACTTGTGGACAAAGAAAATGATGGGAACGCAAAAACGCAAAATGAAACTTGTGGACAAAGAAAAGAATGGGAACGTAAAAACGAGTGACAG

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 72.30% 18.60% 6.35% 0.97% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 1.78%
All Indica  2759 54.10% 31.10% 10.18% 1.67% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 2.97%
All Japonica  1512 99.30% 0.40% 0.26% 0.00% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 0.07%
Aus  269 97.40% 0.00% 2.60% 0.00% NA
Indica I  595 58.20% 25.70% 13.45% 1.34% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 1.34%
Indica II  465 20.40% 53.30% 20.00% 2.80% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 3.44%
Indica III  913 60.10% 29.90% 4.16% 1.75% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 4.05%
Indica Intermediate  786 64.00% 23.30% 8.91% 1.15% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 2.67%
Temperate Japonica  767 99.00% 0.50% 0.39% 0.00% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 0.13%
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.40% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 72.20% 17.80% 8.89% 0.00% CGTTTTTGCGTTCCCATCATTTTCTTTGTCCACAAGTTTCATTTAGT: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0715874680 C -> DEL N N silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> CGTTTTTGCGTTCCCATCATTTTCTTTGTC CACAAGTTTCATTTAGT LOC_Os07g27300.1 upstream_gene_variant ; 581.0bp to feature; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> CGTTTTTGCGTTCCCATCATTTTCTTTGTC CACAAGTTTCATTTAGT LOC_Os07g27300.2 upstream_gene_variant ; 581.0bp to feature; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> CGTTTTTGCGTTCCCATCATTTTCTTTGTC CACAAGTTTCATTTAGT LOC_Os07g27310.1 downstream_gene_variant ; 1154.0bp to feature; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> CGTTTTTGCGTTCCCATCATTTTCTTTGTC CACAAGTTTCATTTAGT LOC_Os07g27300-LOC_Os07g27310 intergenic_region ; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> T LOC_Os07g27300.1 upstream_gene_variant ; 580.0bp to feature; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> T LOC_Os07g27300.2 upstream_gene_variant ; 580.0bp to feature; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> T LOC_Os07g27310.1 downstream_gene_variant ; 1155.0bp to feature; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 N N N N
vg0715874680 C -> T LOC_Os07g27300-LOC_Os07g27310 intergenic_region ; MODIFIER silent_mutation Average:84.508; most accessible tissue: Callus, score: 99.279 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)
vg0715874680 C CGTTT* -0.05 1.09 1.34 -0.15 0.41 0.28
vg0715874680 C T -0.09 -0.12 -0.11 -0.04 -0.09 -0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0715874680 NA 3.27E-12 mr1169 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
vg0715874680 NA 7.65E-06 mr1212 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
vg0715874680 NA 6.45E-06 mr1468 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
vg0715874680 NA 9.02E-06 mr1942 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
vg0715874680 NA 4.09E-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
vg0715874680 NA 3.22E-12 mr1330_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
vg0715874680 NA 5.47E-06 mr1349_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
vg0715874680 NA 1.85E-06 mr1428_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
vg0715874680 NA 4.13E-07 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
vg0715874680 NA 2.65E-06 mr1648_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
vg0715874680 NA 1.58E-21 mr1870_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
vg0715874680 NA 2.30E-07 mr1870_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
vg0715874680 NA 6.19E-06 mr1992_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