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Detailed information for vg1003478386:

Variant ID: vg1003478386 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 3478386
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGAGTTATCCACGCGCGGCAGGACTACTTCAGAGCATGTACAATAATCAGCTATAAACATATTTTAATATTTTAATAAGATAAATGATAAGAGAGAAGAG[T/C]
AACGGTCTACAGATTTGTAGCCAGCTACAGCACTAACTTCAAGACACACTGTGTATATAACATATAGGACCATATATTAATAGTATAGTAAGCAACTATT

Reverse complement sequence

AATAGTTGCTTACTATACTATTAATATATGGTCCTATATGTTATATACACAGTGTGTCTTGAAGTTAGTGCTGTAGCTGGCTACAAATCTGTAGACCGTT[A/G]
CTCTTCTCTCTTATCATTTATCTTATTAAAATATTAAAATATGTTTATAGCTGATTATTGTACATGCTCTGAAGTAGTCCTGCCGCGCGTGGATAACTCG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 54.70% 22.80% 1.78% 20.72% NA
All Indica  2759 46.00% 17.30% 1.78% 34.94% NA
All Japonica  1512 65.90% 33.10% 0.73% 0.26% NA
Aus  269 88.10% 8.60% 3.35% 0.00% NA
Indica I  595 36.30% 20.80% 1.68% 41.18% NA
Indica II  465 62.40% 13.80% 0.22% 23.66% NA
Indica III  913 35.70% 18.50% 3.18% 42.61% NA
Indica Intermediate  786 55.50% 15.40% 1.15% 27.99% NA
Temperate Japonica  767 57.20% 42.10% 0.39% 0.26% NA
Tropical Japonica  504 78.60% 21.20% 0.00% 0.20% NA
Japonica Intermediate  241 66.80% 29.50% 3.32% 0.41% NA
VI/Aromatic  96 28.10% 58.30% 13.54% 0.00% NA
Intermediate  90 62.20% 23.30% 2.22% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1003478386 T -> C LOC_Os10g06720.1 upstream_gene_variant ; 189.0bp to feature; MODIFIER silent_mutation Average:91.907; most accessible tissue: Zhenshan97 root, score: 97.82 N N N N
vg1003478386 T -> C LOC_Os10g06720.2 upstream_gene_variant ; 191.0bp to feature; MODIFIER silent_mutation Average:91.907; most accessible tissue: Zhenshan97 root, score: 97.82 N N N N
vg1003478386 T -> C LOC_Os10g06710.1 downstream_gene_variant ; 3199.0bp to feature; MODIFIER silent_mutation Average:91.907; most accessible tissue: Zhenshan97 root, score: 97.82 N N N N
vg1003478386 T -> C LOC_Os10g06720-LOC_Os10g06730 intergenic_region ; MODIFIER silent_mutation Average:91.907; most accessible tissue: Zhenshan97 root, score: 97.82 N N N N
vg1003478386 T -> DEL N N silent_mutation Average:91.907; most accessible tissue: Zhenshan97 root, score: 97.82 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)
vg1003478386 T C 0.0 0.0 -0.01 -0.03 -0.03 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1003478386 NA 9.08E-06 mr1538 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
vg1003478386 8.13E-08 6.51E-08 mr1547 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
vg1003478386 6.60E-07 8.03E-08 mr1547 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
vg1003478386 2.42E-14 5.44E-16 mr1709 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
vg1003478386 4.48E-10 2.42E-10 mr1709 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
vg1003478386 NA 5.35E-10 mr1709 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
vg1003478386 NA 3.01E-07 mr1831 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
vg1003478386 4.00E-09 6.28E-13 mr1547_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
vg1003478386 5.30E-08 8.00E-10 mr1547_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
vg1003478386 5.24E-06 5.24E-06 mr1547_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
vg1003478386 1.50E-21 1.66E-19 mr1709_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
vg1003478386 1.30E-12 3.58E-11 mr1709_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
vg1003478386 9.20E-15 7.59E-34 mr1709_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
vg1003478386 NA 8.68E-06 mr1922_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