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Detailed information for vg1119579044:

Variant ID: vg1119579044 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 19579044
Reference Allele: TAlternative Allele: C,TGGAGGTTTGGACAGAGATGGGAGGAGATAGGGGCCTCATCAGTCGCGTGGCC
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.01, others allele: 0.00, population size: 272. )

Flanking Sequence (100 bp) in Reference Genome:


TTCCACATCTCCACCACCGGTCAGGCTCGATGGTGTAGCCGCCACCGCCACCCAACTCCTCTTCGTTGGTCGCCTCCCTTCTCCTCATCAGTCGCGTGGC[T/C,TGGAGGTTTGGACAGAGATGGGAGGAGATAGGGGCCTCATCAGTCGCGTGGCC]
TGGAGGTTTGGACAGAGATGGGAGGAGATAGGGGGAGAGAGGGAAGAAGACTTGTTTCACTGATATGTGGGATCTACATACCTTTTTACTTTATGTTTTT

Reverse complement sequence

AAAAACATAAAGTAAAAAGGTATGTAGATCCCACATATCAGTGAAACAAGTCTTCTTCCCTCTCTCCCCCTATCTCCTCCCATCTCTGTCCAAACCTCCA[A/G,GGCCACGCGACTGATGAGGCCCCTATCTCCTCCCATCTCTGTCCAAACCTCCA]
GCCACGCGACTGATGAGGAGAAGGGAGGCGACCAACGAAGAGGAGTTGGGTGGCGGTGGCGGCTACACCATCGAGCCTGACCGGTGGTGGAGATGTGGAA

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 70.40% 29.40% 0.13% 0.00% TGGAGGTTTGGACAGAGATGGGAGGAGATAGGGGCCTCATCAGTCGCGTGGCC: 0.02%
All Indica  2759 85.70% 14.10% 0.18% 0.00% TGGAGGTTTGGACAGAGATGGGAGGAGATAGGGGCCTCATCAGTCGCGTGGCC: 0.04%
All Japonica  1512 40.40% 59.60% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 76.30% 23.40% 0.34% 0.00% NA
Indica II  465 95.50% 4.50% 0.00% 0.00% NA
Indica III  913 87.60% 12.20% 0.22% 0.00% NA
Indica Intermediate  786 84.70% 15.00% 0.13% 0.00% TGGAGGTTTGGACAGAGATGGGAGGAGATAGGGGCCTCATCAGTCGCGTGGCC: 0.13%
Temperate Japonica  767 14.60% 85.40% 0.00% 0.00% NA
Tropical Japonica  504 76.20% 23.80% 0.00% 0.00% NA
Japonica Intermediate  241 47.70% 52.30% 0.00% 0.00% NA
VI/Aromatic  96 27.10% 72.90% 0.00% 0.00% NA
Intermediate  90 67.80% 31.10% 1.11% 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
vg1119579044 T -> TGGAGGTTTGGACAGAGATGGGAGGAGATA GGGGCCTCATCAGTCGCGTGGCC LOC_Os11g33090.1 upstream_gene_variant ; 2506.0bp to feature; MODIFIER silent_mutation Average:82.38; most accessible tissue: Callus, score: 91.085 N N N N
vg1119579044 T -> TGGAGGTTTGGACAGAGATGGGAGGAGATA GGGGCCTCATCAGTCGCGTGGCC LOC_Os11g33100.1 upstream_gene_variant ; 1261.0bp to feature; MODIFIER silent_mutation Average:82.38; most accessible tissue: Callus, score: 91.085 N N N N
vg1119579044 T -> TGGAGGTTTGGACAGAGATGGGAGGAGATA GGGGCCTCATCAGTCGCGTGGCC LOC_Os11g33090-LOC_Os11g33100 intergenic_region ; MODIFIER silent_mutation Average:82.38; most accessible tissue: Callus, score: 91.085 N N N N
vg1119579044 T -> C LOC_Os11g33090.1 upstream_gene_variant ; 2505.0bp to feature; MODIFIER silent_mutation Average:82.38; most accessible tissue: Callus, score: 91.085 N N N N
vg1119579044 T -> C LOC_Os11g33100.1 upstream_gene_variant ; 1262.0bp to feature; MODIFIER silent_mutation Average:82.38; most accessible tissue: Callus, score: 91.085 N N N N
vg1119579044 T -> C LOC_Os11g33090-LOC_Os11g33100 intergenic_region ; MODIFIER silent_mutation Average:82.38; most accessible tissue: Callus, score: 91.085 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)
vg1119579044 T C 0.01 0.01 0.0 0.0 0.01 0.01
vg1119579044 T TGGAG* -0.03 0.04 0.03 -0.01 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1119579044 4.17E-06 NA mr1334 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
vg1119579044 6.15E-06 NA mr1334 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
vg1119579044 NA 7.51E-08 mr1364 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
vg1119579044 NA 8.93E-06 mr1364 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
vg1119579044 NA 9.47E-06 mr1424 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
vg1119579044 NA 6.70E-07 mr1443 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
vg1119579044 NA 4.29E-07 mr1543 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
vg1119579044 NA 1.39E-17 mr1699 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
vg1119579044 NA 4.50E-06 mr1553_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
vg1119579044 NA 1.28E-07 mr1653_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
vg1119579044 2.20E-06 2.20E-06 mr1666_2 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