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Detailed information for vg0141212628:

Variant ID: vg0141212628 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 41212628
Reference Allele: GAlternative Allele: C
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGTTATTATCTTTTCATTCATTGCACTGTCGGGTTGTACTCGCTGTTTTTATTAAATTCCTGTGCCGTTTTCAGCTCGTAGTACTCCTGCTAAGAGCGGG[G/C]
TAATAATACAGCCGACCTACTGGCTATAAGTTTCTTTATAGCCTTCTCTCAGCCTACCCATATAATAGTTAACTCTTCACAATTAACATAGAGCCTACTT

Reverse complement sequence

AAGTAGGCTCTATGTTAATTGTGAAGAGTTAACTATTATATGGGTAGGCTGAGAGAAGGCTATAAAGAAACTTATAGCCAGTAGGTCGGCTGTATTATTA[C/G]
CCCGCTCTTAGCAGGAGTACTACGAGCTGAAAACGGCACAGGAATTTAATAAAAACAGCGAGTACAACCCGACAGTGCAATGAATGAAAAGATAATAACT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 63.60% 36.40% 0.06% 0.00% NA
All Indica  2759 91.80% 8.00% 0.11% 0.00% NA
All Japonica  1512 4.10% 95.90% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 93.80% 6.20% 0.00% 0.00% NA
Indica II  465 95.50% 4.50% 0.00% 0.00% NA
Indica III  913 94.40% 5.60% 0.00% 0.00% NA
Indica Intermediate  786 85.20% 14.40% 0.38% 0.00% NA
Temperate Japonica  767 1.20% 98.80% 0.00% 0.00% NA
Tropical Japonica  504 5.60% 94.40% 0.00% 0.00% NA
Japonica Intermediate  241 10.40% 89.60% 0.00% 0.00% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 54.40% 45.60% 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
vg0141212628 G -> C LOC_Os01g71220.1 upstream_gene_variant ; 3916.0bp to feature; MODIFIER silent_mutation Average:83.117; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0141212628 G -> C LOC_Os01g71230.1 upstream_gene_variant ; 1683.0bp to feature; MODIFIER silent_mutation Average:83.117; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0141212628 G -> C LOC_Os01g71230.2 upstream_gene_variant ; 1683.0bp to feature; MODIFIER silent_mutation Average:83.117; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0141212628 G -> C LOC_Os01g71220-LOC_Os01g71230 intergenic_region ; MODIFIER silent_mutation Average:83.117; most accessible tissue: Minghui63 flower, score: 92.871 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)
vg0141212628 G C 0.11 0.01 0.0 0.0 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0141212628 NA 2.56E-23 mr1383 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
vg0141212628 NA 3.15E-20 mr1168_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
vg0141212628 NA 6.50E-24 mr1383_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
vg0141212628 NA 3.91E-16 mr1557_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
vg0141212628 NA 3.81E-09 mr1659_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
vg0141212628 NA 1.11E-07 mr1765_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
vg0141212628 NA 4.28E-10 mr1806_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
vg0141212628 NA 3.04E-18 mr1817_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
vg0141212628 NA 8.19E-16 mr1866_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