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Detailed information for vg1127119606:

Variant ID: vg1127119606 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 27119606
Reference Allele: GAlternative Allele: T,A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGTAATGGTCACCGAAATTTTCGATCGACTGATCGCCGTTTTTATATAAGGGGTATCGTTTTCGATTGTACCGTTTTTAGCTATTTATAAATTTTATTTT[G/T,A]
TCTACTATATTGAGTAGTTTAAACGATAAATATGGTCAATTACCGATCAATCGAACGTTGTTTTCGAAAAGATGCTACCGATTCCGACCGTTTTCACATA

Reverse complement sequence

TATGTGAAAACGGTCGGAATCGGTAGCATCTTTTCGAAAACAACGTTCGATTGATCGGTAATTGACCATATTTATCGTTTAAACTACTCAATATAGTAGA[C/A,T]
AAAATAAAATTTATAAATAGCTAAAAACGGTACAATCGAAAACGATACCCCTTATATAAAAACGGCGATCAGTCGATCGAAAATTTCGGTGACCATTACG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 90.10% 3.90% 0.87% 1.21% T: 3.85%
All Indica  2759 92.80% 0.20% 1.01% 2.07% T: 3.95%
All Japonica  1512 87.50% 11.50% 0.53% 0.00% T: 0.46%
Aus  269 94.80% 0.70% 0.74% 0.00% T: 3.72%
Indica I  595 90.30% 0.70% 1.85% 0.17% T: 7.06%
Indica II  465 97.60% 0.00% 0.43% 0.43% T: 1.51%
Indica III  913 91.50% 0.20% 0.77% 5.48% T: 2.08%
Indica Intermediate  786 93.30% 0.00% 1.02% 0.51% T: 5.22%
Temperate Japonica  767 91.50% 7.30% 0.91% 0.00% T: 0.26%
Tropical Japonica  504 86.10% 13.50% 0.00% 0.00% T: 0.40%
Japonica Intermediate  241 77.60% 20.70% 0.41% 0.00% T: 1.24%
VI/Aromatic  96 44.80% 0.00% 3.12% 0.00% T: 52.08%
Intermediate  90 88.90% 4.40% 0.00% 0.00% T: 6.67%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1127119606 G -> T LOC_Os11g44810.1 upstream_gene_variant ; 1597.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> T LOC_Os11g44820.1 upstream_gene_variant ; 3331.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> T LOC_Os11g44810.2 upstream_gene_variant ; 1602.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> T LOC_Os11g44810.3 upstream_gene_variant ; 1602.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> T LOC_Os11g44810-LOC_Os11g44820 intergenic_region ; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> A LOC_Os11g44810.1 upstream_gene_variant ; 1597.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> A LOC_Os11g44820.1 upstream_gene_variant ; 3331.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> A LOC_Os11g44810.2 upstream_gene_variant ; 1602.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> A LOC_Os11g44810.3 upstream_gene_variant ; 1602.0bp to feature; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> A LOC_Os11g44810-LOC_Os11g44820 intergenic_region ; MODIFIER silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 N N N N
vg1127119606 G -> DEL N N silent_mutation Average:77.4; most accessible tissue: Minghui63 panicle, score: 94.869 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)
vg1127119606 G A -0.12 -0.07 -0.08 -0.01 -0.06 -0.07
vg1127119606 G T -0.13 -0.07 -0.07 -0.02 -0.06 -0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1127119606 NA 5.29E-06 mr1534 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
vg1127119606 9.21E-07 1.02E-08 mr1745 Jap_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
vg1127119606 NA 5.75E-06 mr1064_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
vg1127119606 3.11E-07 1.65E-11 mr1745_2 Jap_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