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Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg1200558750:

Variant ID: vg1200558750 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 558750
Reference Allele: AAlternative Allele: C,G
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCCGGGCCTGGAATCATCATCACTTCACACAGTGAGTAAAATGAGACTTTTTTTCTACAATGATGACTCAAGCAATGAGCGTCGCATGGCTACCGCCTT[A/C,G]
TTTAGTTGGGGAAAAAATTTTAGGTTTAGTTATCATATCGGATATACGGATACACATTTAATAGTTTAATAATAAAATAAATTACAGATTCCGTTAGAAA

Reverse complement sequence

TTTCTAACGGAATCTGTAATTTATTTTATTATTAAACTATTAAATGTGTATCCGTATATCCGATATGATAACTAAACCTAAAATTTTTTCCCCAACTAAA[T/G,C]
AAGGCGGTAGCCATGCGACGCTCATTGCTTGAGTCATCATTGTAGAAAAAAAGTCTCATTTTACTCACTGTGTGAAGTGATGATGATTCCAGGCCCGGCC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 73.30% 26.50% 0.11% 0.02% G: 0.04%
All Indica  2759 83.30% 16.50% 0.11% 0.04% NA
All Japonica  1512 59.10% 40.80% 0.07% 0.00% NA
Aus  269 76.20% 23.80% 0.00% 0.00% NA
Indica I  595 57.30% 42.50% 0.17% 0.00% NA
Indica II  465 94.60% 5.40% 0.00% 0.00% NA
Indica III  913 95.00% 4.90% 0.00% 0.11% NA
Indica Intermediate  786 82.80% 16.90% 0.25% 0.00% NA
Temperate Japonica  767 94.00% 6.00% 0.00% 0.00% NA
Tropical Japonica  504 11.10% 88.90% 0.00% 0.00% NA
Japonica Intermediate  241 48.50% 51.00% 0.41% 0.00% NA
VI/Aromatic  96 12.50% 86.50% 1.04% 0.00% NA
Intermediate  90 62.20% 35.60% 0.00% 0.00% G: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1200558750 A -> C LOC_Os12g01930.1 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01950.1 upstream_gene_variant ; 4238.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01930.4 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01930.2 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01930.3 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01930.5 upstream_gene_variant ; 106.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01940.1 downstream_gene_variant ; 512.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01940.2 downstream_gene_variant ; 512.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01940.3 downstream_gene_variant ; 512.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> C LOC_Os12g01930-LOC_Os12g01940 intergenic_region ; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> DEL N N silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01930.1 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01950.1 upstream_gene_variant ; 4238.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01930.4 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01930.2 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01930.3 upstream_gene_variant ; 114.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01930.5 upstream_gene_variant ; 106.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01940.1 downstream_gene_variant ; 512.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01940.2 downstream_gene_variant ; 512.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01940.3 downstream_gene_variant ; 512.0bp to feature; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 N N N N
vg1200558750 A -> G LOC_Os12g01930-LOC_Os12g01940 intergenic_region ; MODIFIER silent_mutation Average:93.753; most accessible tissue: Callus, score: 96.445 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)
vg1200558750 A C 0.03 0.02 0.01 0.03 0.02 0.01
vg1200558750 A G 0.0 -0.02 -0.01 0.02 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1200558750 NA 1.57E-08 mr1064 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
vg1200558750 NA 9.32E-07 mr1082 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
vg1200558750 NA 6.72E-08 mr1534 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
vg1200558750 NA 2.08E-06 mr1691 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
vg1200558750 NA 1.88E-08 mr1729 Ind_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
vg1200558750 NA 9.17E-06 mr1751 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
vg1200558750 NA 3.81E-15 mr1115_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
vg1200558750 NA 5.97E-07 mr1277_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
vg1200558750 NA 9.97E-06 mr1679_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
vg1200558750 NA 7.22E-06 mr1691_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
vg1200558750 NA 8.33E-06 mr1788_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
vg1200558750 NA 5.38E-11 mr1789_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