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Detailed information for vg0617983870:

Variant ID: vg0617983870 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 17983870
Reference Allele: CAlternative Allele: G
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAAAATGGACTGACACCTAAGGAATTTGCTCATGGGCTGATATGGCTTGGGCCCCCATGGGGATACGGGGCCTGGGAGCAGTGGAGCGCTCCTACCCCCG[C/G]
CCCACCCGATGGGGCCTAAATTTGGCCGTTCTTTACCCCGTGGGGGAGGATTTCACCCCATTAACTCCCCCTAATAGAGGAATTCCCCGTCGGGTACCGG

Reverse complement sequence

CCGGTACCCGACGGGGAATTCCTCTATTAGGGGGAGTTAATGGGGTGAAATCCTCCCCCACGGGGTAAAGAACGGCCAAATTTAGGCCCCATCGGGTGGG[G/C]
CGGGGGTAGGAGCGCTCCACTGCTCCCAGGCCCCGTATCCCCATGGGGGCCCAAGCCATATCAGCCCATGAGCAAATTCCTTAGGTGTCAGTCCATTTTA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 81.00% 17.60% 1.46% 0.00% NA
All Indica  2759 98.90% 0.90% 0.14% 0.00% NA
All Japonica  1512 43.80% 51.90% 4.30% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.80% 0.80% 0.34% 0.00% NA
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 98.00% 1.80% 0.25% 0.00% NA
Temperate Japonica  767 24.90% 66.80% 8.34% 0.00% NA
Tropical Japonica  504 75.60% 24.40% 0.00% 0.00% NA
Japonica Intermediate  241 37.80% 61.80% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 76.70% 23.30% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0617983870 C -> G LOC_Os06g30920.1 upstream_gene_variant ; 583.0bp to feature; MODIFIER silent_mutation Average:99.713; most accessible tissue: Minghui63 root, score: 99.986 N N N N
vg0617983870 C -> G LOC_Os06g30910-LOC_Os06g30920 intergenic_region ; MODIFIER silent_mutation Average:99.713; most accessible tissue: Minghui63 root, score: 99.986 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)
vg0617983870 C G 0.27 0.31 0.2 0.2 0.18 0.2

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0617983870 5.85E-08 NA mr1549 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
vg0617983870 1.65E-06 NA mr1549 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
vg0617983870 2.95E-08 NA mr1757 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
vg0617983870 NA 2.18E-08 mr1399_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
vg0617983870 NA 3.43E-09 mr1660_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
vg0617983870 NA 3.80E-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