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Detailed information for vg0721325215:

Variant ID: vg0721325215 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 21325215
Reference Allele: CAlternative Allele: G
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGAGTGGTCACAGATAAAGTGGCATGTGTTAATCTATATTGAGGCGAGTGGATCGCTGGGGCGCTCACGATGCTTAGCAGATCGGCGGATTGCATTGCTC[C/G]
AAGTTGTAGGAGCCGCTGTTTCTCTTCTTCGTCGTTACGATCTACAGGATCAGGACGCTGGGGTGAAAGTGGGACGGGTTGTGGCGCCCCGCATCGCATC

Reverse complement sequence

GATGCGATGCGGGGCGCCACAACCCGTCCCACTTTCACCCCAGCGTCCTGATCCTGTAGATCGTAACGACGAAGAAGAGAAACAGCGGCTCCTACAACTT[G/C]
GAGCAATGCAATCCGCCGATCTGCTAAGCATCGTGAGCGCCCCAGCGATCCACTCGCCTCAATATAGATTAACACATGCCACTTTATCTGTGACCACTCA

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 51.20% 41.10% 0.11% 7.55% NA
All Indica  2759 69.70% 17.80% 0.07% 12.36% NA
All Japonica  1512 15.10% 84.60% 0.00% 0.26% NA
Aus  269 87.70% 8.20% 0.74% 3.35% NA
Indica I  595 81.20% 17.30% 0.00% 1.51% NA
Indica II  465 80.00% 18.50% 0.00% 1.51% NA
Indica III  913 59.60% 16.40% 0.11% 23.88% NA
Indica Intermediate  786 66.80% 19.50% 0.13% 13.61% NA
Temperate Japonica  767 5.00% 94.80% 0.00% 0.26% NA
Tropical Japonica  504 29.00% 70.60% 0.00% 0.40% NA
Japonica Intermediate  241 18.70% 81.30% 0.00% 0.00% NA
VI/Aromatic  96 2.10% 96.90% 1.04% 0.00% NA
Intermediate  90 34.40% 62.20% 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
vg0721325215 C -> DEL N N silent_mutation Average:92.128; most accessible tissue: Zhenshan97 flower, score: 98.584 N N N N
vg0721325215 C -> G LOC_Os07g35610.1 upstream_gene_variant ; 4823.0bp to feature; MODIFIER silent_mutation Average:92.128; most accessible tissue: Zhenshan97 flower, score: 98.584 N N N N
vg0721325215 C -> G LOC_Os07g35620.1 downstream_gene_variant ; 486.0bp to feature; MODIFIER silent_mutation Average:92.128; most accessible tissue: Zhenshan97 flower, score: 98.584 N N N N
vg0721325215 C -> G LOC_Os07g35610-LOC_Os07g35620 intergenic_region ; MODIFIER silent_mutation Average:92.128; most accessible tissue: Zhenshan97 flower, score: 98.584 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)
vg0721325215 C G -0.16 -0.12 -0.08 -0.08 -0.1 -0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0721325215 NA 8.13E-06 mr1180 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
vg0721325215 NA 2.66E-07 mr1063_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
vg0721325215 NA 1.32E-07 mr1161_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
vg0721325215 NA 2.09E-07 mr1180_2 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
vg0721325215 NA 2.16E-07 mr1183_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