Search for Variation information by Variation ID:

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

Detailed information for vg1004789770:

Variant ID: vg1004789770 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 4789770
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, T: 0.00, others allele: 0.00, population size: 291. )

Flanking Sequence (100 bp) in Reference Genome:


ACAGCTCACATCGCATTGTGACTCGTACAACTTCAAACCATCTTTGTCCCCCTACCTGCGGCGTCACACACTGCACCCACCACTGGCATCGGCCACCTCT[C/T]
CTCGTGTGCTACCTCCCTTCCTCGCCGGTGTGCGAAACTCCACCGTCTCTGATAGCTTGTACCACTAAGATGCCATCATCTTCCGCCTCATAACCAATGT

Reverse complement sequence

ACATTGGTTATGAGGCGGAAGATGATGGCATCTTAGTGGTACAAGCTATCAGAGACGGTGGAGTTTCGCACACCGGCGAGGAAGGGAGGTAGCACACGAG[G/A]
AGAGGTGGCCGATGCCAGTGGTGGGTGCAGTGTGTGACGCCGCAGGTAGGGGGACAAAGATGGTTTGAAGTTGTACGAGTCACAATGCGATGTGAGCTGT

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 97.00% 2.90% 0.08% 0.00% NA
All Indica  2759 99.80% 0.20% 0.00% 0.00% NA
All Japonica  1512 92.30% 7.40% 0.26% 0.00% NA
Aus  269 98.90% 1.10% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.70% 0.30% 0.00% 0.00% NA
Indica Intermediate  786 99.70% 0.30% 0.00% 0.00% NA
Temperate Japonica  767 88.00% 11.50% 0.52% 0.00% NA
Tropical Japonica  504 99.20% 0.80% 0.00% 0.00% NA
Japonica Intermediate  241 91.70% 8.30% 0.00% 0.00% NA
VI/Aromatic  96 82.30% 17.70% 0.00% 0.00% NA
Intermediate  90 97.80% 2.20% 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
vg1004789770 C -> T LOC_Os10g08840.1 downstream_gene_variant ; 1050.0bp to feature; MODIFIER silent_mutation Average:89.939; most accessible tissue: Callus, score: 94.336 N N N N
vg1004789770 C -> T LOC_Os10g08850.1 downstream_gene_variant ; 976.0bp to feature; MODIFIER silent_mutation Average:89.939; most accessible tissue: Callus, score: 94.336 N N N N
vg1004789770 C -> T LOC_Os10g08840.2 downstream_gene_variant ; 1048.0bp to feature; MODIFIER silent_mutation Average:89.939; most accessible tissue: Callus, score: 94.336 N N N N
vg1004789770 C -> T LOC_Os10g08840-LOC_Os10g08850 intergenic_region ; MODIFIER silent_mutation Average:89.939; most accessible tissue: Callus, score: 94.336 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)
vg1004789770 C T -0.02 -0.02 -0.02 -0.02 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1004789770 1.49E-09 3.60E-13 mr1210 Jap_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
vg1004789770 4.98E-08 4.93E-12 mr1305 Jap_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
vg1004789770 9.73E-06 9.73E-06 mr1409 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
vg1004789770 3.93E-11 5.18E-16 mr1585 Jap_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
vg1004789770 1.30E-08 3.68E-12 mr1586 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
vg1004789770 NA 3.23E-07 mr1765 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
vg1004789770 3.43E-06 3.43E-06 mr1166_2 Jap_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
vg1004789770 2.92E-11 4.89E-14 mr1305_2 Jap_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
vg1004789770 2.93E-06 2.46E-07 mr1409_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
vg1004789770 NA 5.26E-06 mr1559_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
vg1004789770 1.90E-12 1.92E-18 mr1585_2 Jap_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
vg1004789770 NA 9.45E-06 mr1765_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