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Detailed information for vg0729587167:

Variant ID: vg0729587167 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 29587167
Reference Allele: GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAAAlternative Allele: ATGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA,G
Primary Allele: ATGTAAGTCATTCTAGCATT TTCCACATTCATATTGATGT TAATGATCCGTTTCACAASecondary Allele: GTGTAAGTCATTCTAGCATT TTCCACATTCATATTGATGT TAATGATCCGTTTCACAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCCCTACTTGACGACAACTAGTACTTTTTTTGCGGGGAGACGGCGACTAGTATTGTACTCCTTTTTTCATTACATAATCGTATACTCCCTCCGTTTCACA[GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA/ATGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA,G]
TGTAAGTCATTCTAGCATTTCCCACATTCATATTGATGTTAATGAATCTAGACATAACATCAATATAAATGTGAAAAATGCTAAAATGACTTATATTTGT

Reverse complement sequence

ACAAATATAAGTCATTTTAGCATTTTTCACATTTATATTGATGTTATGTCTAGATTCATTAACATCAATATGAATGTGGGAAATGCTAGAATGACTTACA[TTGTGAAACGGATCATTAACATCAATATGAATGTGGAAAATGCTAGAATGACTTACAC/TTGTGAAACGGATCATTAACATCAATATGAATGTGGAAAATGCTAGAATGACTTACAT,C]
TGTGAAACGGAGGGAGTATACGATTATGTAATGAAAAAAGGAGTACAATACTAGTCGCCGTCTCCCCGCAAAAAAAGTACTAGTTGTCGTCAAGTAGGGG

Allele Frequencies:

Populations Population SizeFrequency of ATGTAAGTCATTCTAGCATT TTCCACATTCATATTGATGT TAATGATCCGTTTCACAA(primary allele) Frequency of GTGTAAGTCATTCTAGCATT TTCCACATTCATATTGATGT TAATGATCCGTTTCACAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 65.70% 25.30% 2.22% 0.00% G: 6.77%
All Indica  2759 90.20% 6.10% 3.12% 0.00% G: 0.58%
All Japonica  1512 16.70% 62.70% 1.06% 0.00% G: 19.51%
Aus  269 84.40% 14.50% 0.74% 0.00% G: 0.37%
Indica I  595 95.80% 1.20% 2.02% 0.00% G: 1.01%
Indica II  465 92.90% 4.90% 2.15% 0.00% NA
Indica III  913 88.50% 9.90% 1.42% 0.00% G: 0.22%
Indica Intermediate  786 86.30% 6.20% 6.49% 0.00% G: 1.02%
Temperate Japonica  767 0.90% 93.90% 0.00% 0.00% G: 5.22%
Tropical Japonica  504 32.70% 19.00% 2.98% 0.00% G: 45.24%
Japonica Intermediate  241 33.60% 54.80% 0.41% 0.00% G: 11.20%
VI/Aromatic  96 88.50% 11.50% 0.00% 0.00% NA
Intermediate  90 57.80% 32.20% 1.11% 0.00% G: 8.89%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49390.1 upstream_gene_variant ; 4018.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49400.1 upstream_gene_variant ; 816.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49400.3 upstream_gene_variant ; 816.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49400.4 upstream_gene_variant ; 816.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49400.2 upstream_gene_variant ; 671.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49410.1 downstream_gene_variant ; 2727.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49410.2 downstream_gene_variant ; 2588.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49410.3 downstream_gene_variant ; 2727.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> G LOC_Os07g49400-LOC_Os07g49410 intergenic_region ; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49390.1 upstream_gene_variant ; 4017.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49400.1 upstream_gene_variant ; 815.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49400.3 upstream_gene_variant ; 815.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49400.4 upstream_gene_variant ; 815.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49400.2 upstream_gene_variant ; 670.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49410.1 downstream_gene_variant ; 2728.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49410.2 downstream_gene_variant ; 2589.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49410.3 downstream_gene_variant ; 2728.0bp to feature; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 N N N N
vg0729587167 GTGTAAGTCATTCTAGCATTTTCCACATTCATATTGATGTTAATGATCCGTTTCACAA -> ATGTAAGTCATTCTAGCATTTTCCACATTC ATATTGATGTTAATGATCCGTTTCACAA LOC_Os07g49400-LOC_Os07g49410 intergenic_region ; MODIFIER silent_mutation Average:92.32; most accessible tissue: Zhenshan97 root, score: 98.012 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)
vg0729587167 GTGTA* ATGTA* -0.03 0.04 0.0 -0.05 -0.04 -0.03
vg0729587167 GTGTA* G 0.03 0.49 0.72 0.43 0.4 0.44

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0729587167 NA 7.73E-06 mr1039 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
vg0729587167 NA 7.70E-06 mr1133 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
vg0729587167 NA 8.74E-36 mr1448 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
vg0729587167 NA 1.05E-30 mr1638 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
vg0729587167 NA 3.96E-21 mr1689 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
vg0729587167 NA 2.75E-07 mr1696 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
vg0729587167 NA 4.41E-06 mr1837 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
vg0729587167 NA 2.89E-24 mr1862 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
vg0729587167 NA 9.49E-10 mr1945 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