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Detailed information for vg0142244187:

Variant ID: vg0142244187 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 42244187
Reference Allele: TAlternative Allele: A
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.00, T: 0.00, others allele: 0.00, population size: 309. )

Flanking Sequence (100 bp) in Reference Genome:


ATCTGATCCAGACATCCTGCAGATGGTATGAGGCATGTTGTTGCAAACACTTGGAGACTAAAGGTCTTTAGCTGGAAGAATTTAAACAAATGCCAAGTTG[T/A]
TAGTACTCAACTCCAACAGCAGGATTGATCTGCATTTTGTGGCCAATAAGACACATCTTATGTTCTTAGCTAATTGTGGTCCATAAAGCAACGTCGGTTG

Reverse complement sequence

CAACCGACGTTGCTTTATGGACCACAATTAGCTAAGAACATAAGATGTGTCTTATTGGCCACAAAATGCAGATCAATCCTGCTGTTGGAGTTGAGTACTA[A/T]
CAACTTGGCATTTGTTTAAATTCTTCCAGCTAAAGACCTTTAGTCTCCAAGTGTTTGCAACAACATGCCTCATACCATCTGCAGGATGTCTGGATCAGAT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 77.60% 19.50% 0.44% 2.45% NA
All Indica  2759 97.10% 2.80% 0.11% 0.04% NA
All Japonica  1512 46.10% 45.40% 1.12% 7.41% NA
Aus  269 48.30% 51.30% 0.37% 0.00% NA
Indica I  595 94.50% 5.20% 0.34% 0.00% NA
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 99.10% 0.90% 0.00% 0.00% NA
Indica Intermediate  786 95.70% 4.10% 0.13% 0.13% NA
Temperate Japonica  767 15.50% 83.10% 0.91% 0.52% NA
Tropical Japonica  504 88.30% 1.40% 0.60% 9.72% NA
Japonica Intermediate  241 55.20% 17.40% 2.90% 24.48% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 76.70% 20.00% 0.00% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0142244187 T -> A LOC_Os01g72820.1 3_prime_UTR_variant ; 95.0bp to feature; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> A LOC_Os01g72820.4 3_prime_UTR_variant ; 268.0bp to feature; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> A LOC_Os01g72820.6 3_prime_UTR_variant ; 410.0bp to feature; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> A LOC_Os01g72820.2 3_prime_UTR_variant ; 95.0bp to feature; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> A LOC_Os01g72834.1 upstream_gene_variant ; 3509.0bp to feature; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> A LOC_Os01g72810.1 downstream_gene_variant ; 3620.0bp to feature; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> A LOC_Os01g72820.3 intron_variant ; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> A LOC_Os01g72820.5 intron_variant ; MODIFIER silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 N N N N
vg0142244187 T -> DEL N N silent_mutation Average:76.433; most accessible tissue: Minghui63 root, score: 91.181 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)
vg0142244187 T A -0.14 -0.01 0.0 0.0 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0142244187 NA 4.51E-08 mr1031 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
vg0142244187 NA 6.61E-07 mr1056 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
vg0142244187 NA 6.53E-06 mr1295 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
vg0142244187 NA 1.93E-07 mr1310 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
vg0142244187 NA 1.47E-08 mr1539 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
vg0142244187 NA 2.61E-12 mr1540 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
vg0142244187 NA 2.62E-14 mr1732 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
vg0142244187 NA 6.49E-07 mr1013_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
vg0142244187 NA 1.32E-09 mr1031_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
vg0142244187 NA 4.30E-08 mr1189_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
vg0142244187 NA 1.39E-07 mr1310_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
vg0142244187 1.75E-06 2.62E-07 mr1348_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
vg0142244187 NA 5.08E-06 mr1509_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
vg0142244187 NA 2.97E-17 mr1539_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
vg0142244187 NA 8.53E-17 mr1540_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
vg0142244187 NA 6.97E-09 mr1543_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
vg0142244187 NA 1.89E-16 mr1732_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
vg0142244187 NA 2.98E-06 mr1959_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