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Detailed information for vg0401702306:

Variant ID: vg0401702306 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 1702306
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.85, T: 0.14, others allele: 0.00, population size: 55. )

Flanking Sequence (100 bp) in Reference Genome:


AATTGCGTATACTGTATTATATATGTACTGGCCGTACATATTGTTATCTACTCCGTACCGTAGAAATTCTCATACAGTAGTAAACCAGCGTTCCTGACAA[C/T]
ATATAATTTGCAAACTTAACATGCGTGCACCTATATATGCAGCTCTATGTAGTGTACCTCGGTGACAAGCAGCATGAAGATCCAGAACAAACTACAGCTT

Reverse complement sequence

AAGCTGTAGTTTGTTCTGGATCTTCATGCTGCTTGTCACCGAGGTACACTACATAGAGCTGCATATATAGGTGCACGCATGTTAAGTTTGCAAATTATAT[G/A]
TTGTCAGGAACGCTGGTTTACTACTGTATGAGAATTTCTACGGTACGGAGTAGATAACAATATGTACGGCCAGTACATATATAATACAGTATACGCAATT

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 37.50% 18.30% 4.66% 39.50% NA
All Indica  2759 15.30% 24.20% 6.67% 53.86% NA
All Japonica  1512 75.70% 7.50% 1.12% 15.67% NA
Aus  269 55.40% 5.20% 0.37% 39.03% NA
Indica I  595 27.10% 13.10% 1.34% 58.49% NA
Indica II  465 12.70% 48.00% 8.82% 30.54% NA
Indica III  913 4.50% 17.10% 10.41% 68.02% NA
Indica Intermediate  786 20.50% 26.70% 5.09% 47.71% NA
Temperate Japonica  767 76.90% 11.00% 0.13% 11.99% NA
Tropical Japonica  504 73.60% 4.40% 2.98% 19.05% NA
Japonica Intermediate  241 76.30% 2.90% 0.41% 20.33% NA
VI/Aromatic  96 18.80% 56.20% 13.54% 11.46% NA
Intermediate  90 42.20% 21.10% 5.56% 31.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0401702306 C -> DEL N N silent_mutation Average:60.118; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N
vg0401702306 C -> T LOC_Os04g03796.2 upstream_gene_variant ; 3083.0bp to feature; MODIFIER silent_mutation Average:60.118; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N
vg0401702306 C -> T LOC_Os04g03796.1 intron_variant ; MODIFIER silent_mutation Average:60.118; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N
vg0401702306 C -> T LOC_Os04g03796.3 intron_variant ; MODIFIER silent_mutation Average:60.118; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N
vg0401702306 C -> T LOC_Os04g03796.4 intron_variant ; MODIFIER silent_mutation Average:60.118; most accessible tissue: Minghui63 flag leaf, score: 91.28 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)
vg0401702306 C T 0.09 -0.01 -0.02 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0401702306 NA 2.71E-06 mr1028 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
vg0401702306 NA 4.33E-06 mr1453 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
vg0401702306 NA 3.89E-07 mr1648 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
vg0401702306 NA 1.93E-06 mr1652 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
vg0401702306 NA 2.17E-06 mr1683 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
vg0401702306 1.92E-06 2.68E-09 mr1697 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
vg0401702306 NA 2.11E-07 mr1062_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