Search for Variation information by Variation ID:

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

Detailed information for vg1222438799:

Variant ID: vg1222438799 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 22438799
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCGTGGGGTTCAGCTGCAATAGTGTGCGGATAAATGCATGCACCGTTGCTCGATGCAAAAGGATCTAGTGATCTCATATTATCCCAATCCAATAGGGGTG[T/C]
AAAGTTTCAGTGTGTCACATCAGATATTATATATGGTATCGTATGGGGTGTTCGGACACTAATAAAAAAATAATTACATAATCCATCAGTAAACCGCGAG

Reverse complement sequence

CTCGCGGTTTACTGATGGATTATGTAATTATTTTTTTATTAGTGTCCGAACACCCCATACGATACCATATATAATATCTGATGTGACACACTGAAACTTT[A/G]
CACCCCTATTGGATTGGGATAATATGAGATCACTAGATCCTTTTGCATCGAGCAACGGTGCATGCATTTATCCGCACACTATTGCAGCTGAACCCCACGA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 44.80% 13.80% 2.09% 39.27% NA
All Indica  2759 32.80% 11.20% 2.83% 53.17% NA
All Japonica  1512 73.90% 10.30% 0.73% 15.01% NA
Aus  269 8.60% 33.10% 3.35% 55.02% NA
Indica I  595 24.70% 35.30% 2.35% 37.65% NA
Indica II  465 50.10% 1.50% 3.01% 45.38% NA
Indica III  913 27.40% 4.40% 1.53% 66.70% NA
Indica Intermediate  786 35.10% 6.50% 4.58% 53.82% NA
Temperate Japonica  767 84.60% 2.20% 0.91% 12.26% NA
Tropical Japonica  504 66.70% 11.10% 0.60% 21.63% NA
Japonica Intermediate  241 55.20% 34.40% 0.41% 9.96% NA
VI/Aromatic  96 11.50% 85.40% 0.00% 3.12% NA
Intermediate  90 66.70% 20.00% 1.11% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1222438799 T -> C LOC_Os12g36640-LOC_Os12g36660 intergenic_region ; MODIFIER silent_mutation Average:58.611; most accessible tissue: Zhenshan97 panicle, score: 93.657 N N N N
vg1222438799 T -> DEL N N silent_mutation Average:58.611; most accessible tissue: Zhenshan97 panicle, score: 93.657 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)
vg1222438799 T C 0.11 0.01 0.01 0.04 0.05 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1222438799 NA 6.02E-06 mr1118_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
vg1222438799 NA 1.14E-06 mr1123_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
vg1222438799 NA 1.53E-06 mr1242_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
vg1222438799 NA 4.60E-08 mr1265_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
vg1222438799 NA 1.73E-07 mr1495_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
vg1222438799 NA 9.36E-07 mr1528_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
vg1222438799 NA 5.73E-06 mr1691_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
vg1222438799 2.40E-06 2.93E-07 mr1698_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