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Search for Variation information by Variation ID:

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

Detailed information for vg0721381168:

Variant ID: vg0721381168 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 21381168
Reference Allele: TAlternative Allele: G
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGAGGTTGATGCGTGGGGATGCCCTACTGCATCACGTCAGTATATTATTATTTATTGAATCCACCATTGTGGCTGTAATTAGAATTAATAAGATGGTATT[T/G]
CTTAGAAATTGAAACTGACCGGAGTGGATAATAAAAGTCAGGAGTGATCACGATGTATGGCATGATGAATTGTCACTGTTGTCAATTATGCTGTTATTAG

Reverse complement sequence

CTAATAACAGCATAATTGACAACAGTGACAATTCATCATGCCATACATCGTGATCACTCCTGACTTTTATTATCCACTCCGGTCAGTTTCAATTTCTAAG[A/C]
AATACCATCTTATTAATTCTAATTACAGCCACAATGGTGGATTCAATAAATAATAATATACTGACGTGATGCAGTAGGGCATCCCCACGCATCAACCTCA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.90% 45.90% 4.10% 0.02% NA
All Indica  2759 43.90% 49.60% 6.45% 0.04% NA
All Japonica  1512 58.30% 40.90% 0.86% 0.00% NA
Aus  269 72.90% 27.10% 0.00% 0.00% NA
Indica I  595 19.00% 81.00% 0.00% 0.00% NA
Indica II  465 61.50% 30.80% 7.74% 0.00% NA
Indica III  913 48.30% 43.00% 8.54% 0.11% NA
Indica Intermediate  786 47.30% 44.50% 8.14% 0.00% NA
Temperate Japonica  767 35.30% 64.30% 0.39% 0.00% NA
Tropical Japonica  504 86.50% 12.10% 1.39% 0.00% NA
Japonica Intermediate  241 72.20% 26.60% 1.24% 0.00% NA
VI/Aromatic  96 37.50% 62.50% 0.00% 0.00% NA
Intermediate  90 38.90% 57.80% 3.33% 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
vg0721381168 T -> DEL N N silent_mutation Average:79.894; most accessible tissue: Zhenshan97 root, score: 95.855 N N N N
vg0721381168 T -> G LOC_Os07g35690.1 3_prime_UTR_variant ; 150.0bp to feature; MODIFIER silent_mutation Average:79.894; most accessible tissue: Zhenshan97 root, score: 95.855 N N N N
vg0721381168 T -> G LOC_Os07g35690.2 3_prime_UTR_variant ; 150.0bp to feature; MODIFIER silent_mutation Average:79.894; most accessible tissue: Zhenshan97 root, score: 95.855 N N N N
vg0721381168 T -> G LOC_Os07g35700.1 downstream_gene_variant ; 3579.0bp to feature; MODIFIER silent_mutation Average:79.894; most accessible tissue: Zhenshan97 root, score: 95.855 N N N N
vg0721381168 T -> G LOC_Os07g35700.2 downstream_gene_variant ; 3579.0bp to feature; MODIFIER silent_mutation Average:79.894; most accessible tissue: Zhenshan97 root, score: 95.855 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)
vg0721381168 T G 0.2 -0.02 -0.11 0.0 0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0721381168 NA 8.30E-07 mr1186 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
vg0721381168 NA 6.30E-07 mr1616 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
vg0721381168 4.05E-06 NA mr1627 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
vg0721381168 NA 4.94E-07 mr1627 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
vg0721381168 NA 5.00E-06 mr1977 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
vg0721381168 NA 9.58E-06 mr1236_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