Search for Variation information by Variation ID:

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

Detailed information for vg1100250151:

Variant ID: vg1100250151 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 250151
Reference Allele: GAlternative Allele: GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT,GTGT,T,GTGTCCGGCCACTGCTACGGCCCCTTGGAC,GTGTCCGGCCACTGCTACGGCCCCTTGGA,GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGTCCAACATCATCCTCAACA
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCTATCCAAGTGCGTATCGGCTCATGCAACCCAACATATTCCTACTGATGACTCCCCGCCATGCGACCACATACTCTCCCTTTACATGTGCCTCCTCGTC[G/GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT,GTGT,T,GTGTCCGGCCACTGCTACGGCCCCTTGGAC,GTGTCCGGCCACTGCTACGGCCCCTTGGA,GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGTCCAACATCATCCTCAACA]
CCATCCTCCCCTACGCCGCCGCAGCCGAGGCTTCCAAGCACCCGCAGCACACCGCGCTCGGGTCATTCCTCCTCTCCCTCTCCGGCGACGGCGAGAAGCT

Reverse complement sequence

AGCTTCTCGCCGTCGCCGGAGAGGGAGAGGAGGAATGACCCGAGCGCGGTGTGCTGCGGGTGCTTGGAAGCCTCGGCTGCGGCGGCGTAGGGGAGGATGG[C/ACACGGGGTCCAAGGGGCCGTAGCAGTGGCCGGACAC,ACAC,A,GTCCAAGGGGCCGTAGCAGTGGCCGGACAC,TCCAAGGGGCCGTAGCAGTGGCCGGACAC,TGTTGAGGATGATGTTGGACACGGGGTCCAAGGGGCCGTAGCAGTGGCCGGACAC]
GACGAGGAGGCACATGTAAAGGGAGAGTATGTGGTCGCATGGCGGGGAGTCATCAGTAGGAATATGTTGGGTTGCATGAGCCGATACGCACTTGGATAGC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.40% 12.00% 28.93% 1.63% GTGT: 6.03%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 1.54%; GTGTCCGGCCACTGCTACGGCCCCTTGGAC: 0.25%; GTGTCCGGCCACTGCTACGGCCCCTTGGA: 0.19%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGTCCAACATCATCCTCAACA: 0.02%
All Indica  2759 34.60% 8.00% 41.65% 2.75% GTGT: 9.79%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 2.46%; GTGTCCGGCCACTGCTACGGCCCCTTGGAC: 0.40%; GTGTCCGGCCACTGCTACGGCCCCTTGGA: 0.33%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGTCCAACATCATCCTCAACA: 0.04%
All Japonica  1512 75.50% 21.40% 2.91% 0.07% GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 0.07%; GTGT: 0.07%
Aus  269 39.00% 0.40% 55.02% 0.00% GTGT: 4.09%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 1.12%; GTGTCCGGCCACTGCTACGGCCCCTTGGAC: 0.37%
Indica I  595 26.40% 0.30% 61.51% 2.18% GTGT: 8.57%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 0.84%; GTGTCCGGCCACTGCTACGGCCCCTTGGAC: 0.17%
Indica II  465 26.20% 34.20% 30.32% 1.08% GTGT: 6.02%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 1.94%; GTGTCCGGCCACTGCTACGGCCCCTTGGA: 0.22%
Indica III  913 42.90% 1.00% 32.42% 4.82% GTGT: 13.36%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 4.27%; GTGTCCGGCCACTGCTACGGCCCCTTGGAC: 0.77%; GTGTCCGGCCACTGCTACGGCCCCTTGGA: 0.44%
Indica Intermediate  786 36.10% 6.40% 44.02% 1.78% GTGT: 8.78%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 1.91%; GTGTCCGGCCACTGCTACGGCCCCTTGGA: 0.51%; GTGTCCGGCCACTGCTACGGCCCCTTGGAC: 0.38%; GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGTCCAACATCATCCTCAACA: 0.13%
Temperate Japonica  767 94.00% 3.50% 2.22% 0.13% GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 0.13%
Tropical Japonica  504 43.70% 52.40% 3.77% 0.00% GTGT: 0.20%
Japonica Intermediate  241 83.00% 13.70% 3.32% 0.00% NA
VI/Aromatic  96 90.60% 0.00% 7.29% 0.00% GTGT: 2.08%
Intermediate  90 52.20% 24.40% 21.11% 0.00% GTGTCCGGCCACTGCTACGGCCCCTTGGACCCCGTGT: 1.11%; GTGT: 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
vg1100250151 G -> GTGT LOC_Os11g01390.1 upstream_gene_variant ; 4515.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGT LOC_Os11g01410.1 downstream_gene_variant ; 654.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGT LOC_Os11g01420.1 downstream_gene_variant ; 2274.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGT LOC_Os11g01400.1 intron_variant ; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> T LOC_Os11g01390.1 upstream_gene_variant ; 4514.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> T LOC_Os11g01410.1 downstream_gene_variant ; 655.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> T LOC_Os11g01420.1 downstream_gene_variant ; 2275.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> T LOC_Os11g01400.1 intron_variant ; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> DEL N N silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGA LOC_Os11g01390.1 upstream_gene_variant ; 4515.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGA LOC_Os11g01410.1 downstream_gene_variant ; 654.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGA LOC_Os11g01420.1 downstream_gene_variant ; 2274.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGA LOC_Os11g01400.1 intron_variant ; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGT LOC_Os11g01390.1 upstream_gene_variant ; 4515.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGT LOC_Os11g01410.1 downstream_gene_variant ; 654.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGT LOC_Os11g01420.1 downstream_gene_variant ; 2274.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGT LOC_Os11g01400.1 intron_variant ; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGTCCAACATCATCCTCAACA LOC_Os11g01390.1 upstream_gene_variant ; 4515.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGTCCAACATCATCCTCAACA LOC_Os11g01410.1 downstream_gene_variant ; 654.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGTCCAACATCATCCTCAACA LOC_Os11g01420.1 downstream_gene_variant ; 2274.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC CCCGTGTCCAACATCATCCTCAACA LOC_Os11g01400.1 intron_variant ; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC LOC_Os11g01390.1 upstream_gene_variant ; 4515.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC LOC_Os11g01410.1 downstream_gene_variant ; 654.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC LOC_Os11g01420.1 downstream_gene_variant ; 2274.0bp to feature; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1100250151 G -> GTGTCCGGCCACTGCTACGGCCCCTTGGAC LOC_Os11g01400.1 intron_variant ; MODIFIER silent_mutation Average:77.852; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 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)
vg1100250151 G GTGT -0.03 0.08 0.12 0.17 0.13 0.15
vg1100250151 G GTGTC* 0.1 0.17 0.17 0.37 0.31 0.35
vg1100250151 G T 0.01 0.01 0.0 0.03 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1100250151 NA 5.92E-06 mr1032 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
vg1100250151 NA 5.90E-06 mr1216 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
vg1100250151 NA 1.24E-10 mr1248 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
vg1100250151 NA 7.30E-06 mr1543 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
vg1100250151 NA 5.10E-15 mr1769 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
vg1100250151 NA 3.35E-06 mr1887 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
vg1100250151 NA 1.28E-15 mr1889 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
vg1100250151 NA 9.48E-13 mr1896 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
vg1100250151 NA 3.22E-13 mr1903 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
vg1100250151 NA 4.11E-17 mr1907 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
vg1100250151 NA 8.53E-14 mr1934 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
vg1100250151 NA 2.43E-14 mr1935 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
vg1100250151 NA 4.82E-09 mr1951 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
vg1100250151 NA 1.64E-06 mr1332_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
vg1100250151 NA 2.81E-07 mr1354_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
vg1100250151 NA 3.14E-09 mr1364_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
vg1100250151 NA 5.30E-07 mr1632_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
vg1100250151 NA 1.07E-10 mr1769_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
vg1100250151 2.61E-09 2.47E-22 mr1889_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
vg1100250151 9.01E-06 2.08E-14 mr1896_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
vg1100250151 NA 3.17E-18 mr1907_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
vg1100250151 NA 1.39E-15 mr1934_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