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Detailed information for vg1126875179:

Variant ID: vg1126875179 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 26875179
Reference Allele: CAlternative Allele: T,CCGAAAATTT
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTAATAGACTCGATGCTTATCTATACTCTGATCTTGGTCAAATTTCTTTCTTTTTTATTGTTTAAATTCAAATTTTGTTTGAGAATTTCGTCCGAAATT[C/T,CCGAAAATTT]
CCGAAAATTTCGGAAATTTCGGAATTTCGGTGACCCCCGAAATTTTTCCCCTTCCCGATAGGTTGAACCTTGGTCAAATTTCTTTCTTTTTTATTGTTTA

Reverse complement sequence

TAAACAATAAAAAAGAAAGAAATTTGACCAAGGTTCAACCTATCGGGAAGGGGAAAAATTTCGGGGGTCACCGAAATTCCGAAATTTCCGAAATTTTCGG[G/A,AAATTTTCGG]
AATTTCGGACGAAATTCTCAAACAAAATTTGAATTTAAACAATAAAAAAGAAAGAAATTTGACCAAGATCAGAGTATAGATAAGCATCGAGTCTATTAAA

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 51.20% 1.00% 11.57% 36.14% CCGAAAATTT: 0.02%
All Indica  2759 26.10% 1.40% 16.71% 55.78% CCGAAAATTT: 0.04%
All Japonica  1512 92.70% 0.10% 1.06% 6.08% NA
Aus  269 77.70% 0.00% 0.74% 21.56% NA
Indica I  595 18.50% 1.30% 28.74% 51.43% NA
Indica II  465 24.70% 2.60% 20.43% 52.26% NA
Indica III  913 28.70% 1.00% 8.21% 61.99% CCGAAAATTT: 0.11%
Indica Intermediate  786 29.50% 1.30% 15.27% 53.94% NA
Temperate Japonica  767 94.10% 0.30% 1.17% 4.43% NA
Tropical Japonica  504 93.70% 0.00% 0.40% 5.95% NA
Japonica Intermediate  241 86.30% 0.00% 2.07% 11.62% NA
VI/Aromatic  96 42.70% 5.20% 48.96% 3.12% NA
Intermediate  90 56.70% 2.20% 23.33% 17.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1126875179 C -> CCGAAAATTT LOC_Os11g44410.1 upstream_gene_variant ; 3465.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> CCGAAAATTT LOC_Os11g44415.1 upstream_gene_variant ; 1267.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> CCGAAAATTT LOC_Os11g44420.1 downstream_gene_variant ; 187.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> CCGAAAATTT LOC_Os11g44430.1 downstream_gene_variant ; 2694.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> CCGAAAATTT LOC_Os11g44415-LOC_Os11g44420 intergenic_region ; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> T LOC_Os11g44410.1 upstream_gene_variant ; 3464.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> T LOC_Os11g44415.1 upstream_gene_variant ; 1266.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> T LOC_Os11g44420.1 downstream_gene_variant ; 188.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> T LOC_Os11g44430.1 downstream_gene_variant ; 2695.0bp to feature; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> T LOC_Os11g44415-LOC_Os11g44420 intergenic_region ; MODIFIER silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1126875179 C -> DEL N N silent_mutation Average:50.276; most accessible tissue: Minghui63 root, score: 90.186 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)
vg1126875179 C CCGAA* 0.09 0.25 0.16 0.08 0.22 0.31
vg1126875179 C T 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1126875179 NA 9.52E-06 mr1295_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
vg1126875179 8.37E-07 3.46E-07 mr1522_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
vg1126875179 NA 1.47E-06 mr1522_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
vg1126875179 7.44E-06 NA mr1553_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
vg1126875179 NA 2.68E-07 mr1553_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
vg1126875179 NA 1.43E-06 mr1574_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
vg1126875179 NA 6.17E-08 mr1662_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