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Detailed information for vg1123212318:

Variant ID: vg1123212318 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 23212318
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TACAGGTAGGACCAGGCCGCACCGCGCACGCGCTCCAGATTGTTGGGAGCCACGTCGGCCAGCGGCCTCCGCCGTCGAGCTTTTCCCCGTCAGCCAACAC[T/C]
ATTCTCCCTACCTATTGGCGGCTGTCCTGGAGGTTTGGGTTGTGATGGGAAGAAAGGGAACTGAGATGTAAAAAGATTGCCAAAAATTGTGAAATTGTGG

Reverse complement sequence

CCACAATTTCACAATTTTTGGCAATCTTTTTACATCTCAGTTCCCTTTCTTCCCATCACAACCCAAACCTCCAGGACAGCCGCCAATAGGTAGGGAGAAT[A/G]
GTGTTGGCTGACGGGGAAAAGCTCGACGGCGGAGGCCGCTGGCCGACGTGGCTCCCAACAATCTGGAGCGCGTGCGCGGTGCGGCCTGGTCCTACCTGTA

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 65.20% 14.60% 4.51% 15.72% NA
All Indica  2759 69.40% 1.20% 6.67% 22.69% NA
All Japonica  1512 49.10% 42.60% 1.59% 6.75% NA
Aus  269 99.30% 0.00% 0.00% 0.74% NA
Indica I  595 82.70% 0.80% 6.89% 9.58% NA
Indica II  465 48.80% 1.10% 12.26% 37.85% NA
Indica III  913 75.70% 0.40% 3.61% 20.26% NA
Indica Intermediate  786 64.20% 2.50% 6.74% 26.46% NA
Temperate Japonica  767 22.80% 73.70% 0.91% 2.61% NA
Tropical Japonica  504 81.50% 5.60% 1.98% 10.91% NA
Japonica Intermediate  241 64.70% 21.20% 2.90% 11.20% NA
VI/Aromatic  96 99.00% 0.00% 1.04% 0.00% NA
Intermediate  90 66.70% 14.40% 4.44% 14.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1123212318 T -> DEL N N silent_mutation Average:92.212; most accessible tissue: Zhenshan97 flower, score: 95.312 N N N N
vg1123212318 T -> C LOC_Os11g38990.1 upstream_gene_variant ; 149.0bp to feature; MODIFIER silent_mutation Average:92.212; most accessible tissue: Zhenshan97 flower, score: 95.312 N N N N
vg1123212318 T -> C LOC_Os11g38990.3 upstream_gene_variant ; 149.0bp to feature; MODIFIER silent_mutation Average:92.212; most accessible tissue: Zhenshan97 flower, score: 95.312 N N N N
vg1123212318 T -> C LOC_Os11g38990.2 upstream_gene_variant ; 149.0bp to feature; MODIFIER silent_mutation Average:92.212; most accessible tissue: Zhenshan97 flower, score: 95.312 N N N N
vg1123212318 T -> C LOC_Os11g38980-LOC_Os11g38990 intergenic_region ; MODIFIER silent_mutation Average:92.212; most accessible tissue: Zhenshan97 flower, score: 95.312 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)
vg1123212318 T C -0.11 -0.08 -0.07 -0.08 -0.11 -0.1

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1123212318 NA 1.36E-09 Heading_date Jap_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg1123212318 NA 4.28E-08 mr1156_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
vg1123212318 NA 6.88E-07 mr1330_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
vg1123212318 NA 1.79E-09 mr1338_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
vg1123212318 NA 2.25E-09 mr1454_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
vg1123212318 3.02E-06 3.02E-06 mr1579_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
vg1123212318 NA 3.77E-06 mr1621_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
vg1123212318 NA 7.88E-14 mr1879_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
vg1123212318 NA 2.33E-08 mr1879_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