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Detailed information for vg0703260416:

Variant ID: vg0703260416 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 3260416
Reference Allele: TAlternative Allele: TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA,TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTC,TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA,TTCGTTAGATTGAAATATGTCTATAAAAATACTC,TTCGTTAGATTGAAATATGTCTATAAAAATACTCTCTC,TTCTTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA
Primary Allele: TSecondary Allele: TTCGTTAGATTGAAATATGT CTATAAAAATACTCCCTC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GATTCATTAATATTTATATTTCTAGATACCCATATAGCCAATCTTGAGTAGAGAAATAGAGAGTCACGCATTAATTTCGAGAAAGTCATTAAGATGATAG[T/TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA,TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTC,TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA,TTCGTTAGATTGAAATATGTCTATAAAAATACTC,TTCGTTAGATTGAAATATGTCTATAAAAATACTCTCTC,TTCTTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA]
CATATTTTTAAATCTGAAAATTTTATTTTTAATAGTCATATTTCAATCCAACAACTTATCATCTTAATGGCTTTATTGGATTTAATGCATGACTCTTCAT

Reverse complement sequence

ATGAAGAGTCATGCATTAAATCCAATAAAGCCATTAAGATGATAAGTTGTTGGATTGAAATATGACTATTAAAAATAAAATTTTCAGATTTAAAAATATG[A/TCTATGAAAAGTAGATGGAGGGAGTATTTTTATAGACATATTTCAATCTAACGAA,GAGGGAGTATTTTTATAGACATATTTCAATCTAACGAA,TAGATGGAGGGAGTATTTTTATAGACATATTTCAATCTAACGAA,GAGTATTTTTATAGACATATTTCAATCTAACGAA,GAGAGAGTATTTTTATAGACATATTTCAATCTAACGAA,TCTATGAAAAGTAGATGGAGGGAGTATTTTTATAGACATATTTCAATCTAAAGAA]
CTATCATCTTAATGACTTTCTCGAAATTAATGCGTGACTCTCTATTTCTCTACTCAAGATTGGCTATATGGGTATCTAGAAATATAAATATTAATGAATC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TTCGTTAGATTGAAATATGT CTATAAAAATACTCCCTC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 44.00% 5.40% 35.65% 11.87% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 2.01%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 0.93%; TTCGTTAGATTGAAATATGTCTATAAAAATACTC: 0.13%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCTCTC: 0.02%; TTCTTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 0.02%
All Indica  2759 12.70% 8.30% 54.91% 19.25% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 3.19%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 1.38%; TTCGTTAGATTGAAATATGTCTATAAAAATACTC: 0.14%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCTCTC: 0.04%; TTCTTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 0.04%
All Japonica  1512 99.70% 0.00% 0.13% 0.20% NA
Aus  269 26.40% 7.40% 54.28% 7.06% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 2.23%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 1.86%; TTCGTTAGATTGAAATATGTCTATAAAAATACTC: 0.74%
Indica I  595 15.10% 5.00% 56.30% 17.31% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 5.21%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 1.01%
Indica II  465 4.70% 10.80% 57.42% 20.43% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 4.95%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 1.72%
Indica III  913 13.50% 10.10% 52.57% 21.47% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 1.64%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 0.33%; TTCGTTAGATTGAAATATGTCTATAAAAATACTC: 0.33%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCTCTC: 0.11%
Indica Intermediate  786 14.80% 7.40% 55.09% 17.43% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 3.94%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 1.15%; TTCTTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 0.13%; TTCGTTAGATTGAAATATGTCTATAAAAATACTC: 0.13%
Temperate Japonica  767 99.90% 0.00% 0.13% 0.00% NA
Tropical Japonica  504 99.20% 0.00% 0.20% 0.60% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 93.80% 1.00% 4.17% 1.04% NA
Intermediate  90 65.60% 4.40% 20.00% 7.78% TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTA: 1.11%; TTCGTTAGATTGAAATATGTCTATAAAAATACTCCCTCCATCTACTTTTCATAGA: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCTCTC LOC_Os07g06700.1 downstream_gene_variant ; 4936.0bp to feature; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCTCTC LOC_Os07g06680.1 intron_variant ; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCCCTCCATCTA LOC_Os07g06700.1 downstream_gene_variant ; 4936.0bp to feature; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCCCTCCATCTA LOC_Os07g06680.1 intron_variant ; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCCCTCCATCTACTTTTCATAGA LOC_Os07g06700.1 downstream_gene_variant ; 4936.0bp to feature; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCCCTCCATCTACTTTTCATAGA LOC_Os07g06680.1 intron_variant ; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTC LOC_Os07g06700.1 downstream_gene_variant ; 4936.0bp to feature; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTC LOC_Os07g06680.1 intron_variant ; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCTTTAGATTGAAATATGTCTATAAAAAT ACTCCCTCCATCTACTTTTCATAGA LOC_Os07g06700.1 downstream_gene_variant ; 4936.0bp to feature; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCTTTAGATTGAAATATGTCTATAAAAAT ACTCCCTCCATCTACTTTTCATAGA LOC_Os07g06680.1 intron_variant ; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> DEL N N silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCCCTC LOC_Os07g06700.1 downstream_gene_variant ; 4936.0bp to feature; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 N N N N
vg0703260416 T -> TTCGTTAGATTGAAATATGTCTATAAAAAT ACTCCCTC LOC_Os07g06680.1 intron_variant ; MODIFIER silent_mutation Average:88.761; most accessible tissue: Minghui63 young leaf, score: 96.657 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)
vg0703260416 T TTCGT* -0.06 -0.33 -0.3 -0.49 -0.28 -0.29
vg0703260416 T TTCTT* -0.06 -0.33 -0.3 -0.49 -0.28 -0.28

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0703260416 NA 7.16E-06 Awn_length Ind_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
vg0703260416 NA 9.22E-26 mr1155 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
vg0703260416 NA 2.97E-08 mr1155 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
vg0703260416 NA 9.30E-06 mr1561 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
vg0703260416 NA 9.47E-08 mr1063_2 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
vg0703260416 NA 7.40E-43 mr1155_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
vg0703260416 NA 4.88E-08 mr1155_2 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
vg0703260416 NA 2.42E-06 mr1180_2 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
vg0703260416 NA 3.26E-08 mr1218_2 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
vg0703260416 NA 7.14E-06 mr1220_2 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
vg0703260416 NA 8.33E-06 mr1277_2 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
vg0703260416 NA 3.14E-06 mr1422_2 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
vg0703260416 NA 5.97E-10 mr1646_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
vg0703260416 1.82E-06 4.48E-08 mr1646_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
vg0703260416 NA 1.25E-07 mr1653_2 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
vg0703260416 NA 4.09E-08 mr1800_2 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
vg0703260416 NA 6.41E-06 mr1944_2 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
vg0703260416 NA 1.79E-06 mr1959_2 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