Search for Variation information by Variation ID:

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

Detailed information for vg0127041564:

Variant ID: vg0127041564 (JBrowse)	Variation Type: SNP
Chromosome: chr01	Position: 27041564
Reference Allele: A	Alternative Allele: G
Primary Allele: A	Secondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:

CATTGGGGGAGAATAGTTTCTTCATAATAGATAAAGAATAAATATGATTGGTAGAGAAGAGAGATGATGTATTTATTAATGGTCCACTTTAAGAAACCAT[A/G]
AGTTATGGAGTGTAATTTTTATTGTGATGTCTTATTGACATGGTACCATATACACTACCTTTAAACGCTATGGTTTGGGACTGCTCTCATGTATTATATC

Reverse complement sequence

GATATAATACATGAGAGCAGTCCCAAACCATAGCGTTTAAAGGTAGTGTATATGGTACCATGTCAATAAGACATCACAATAAAAATTACACTCCATAACT[T/C]
ATGGTTTCTTAAAGTGGACCATTAATAAATACATCATCTCTCTTCTCTACCAATCATATTTATTCTTTATCTATTATGAAGAAACTATTCTCCCCCAATG

Allele Frequencies:

Populations	Population Size	Frequency of A(primary allele)	Frequency of G(secondary allele)	Frequency of N	Frequency of DEL	Frequency of others Allele
All	4726	91.50%	7.80%	0.40%	0.34%	NA
All Indica	2759	98.00%	1.90%	0.04%	0.04%	NA
All Japonica	1512	85.20%	14.70%	0.07%	0.00%	NA
Aus	269	60.20%	28.60%	5.95%	5.20%	NA
Indica I	595	98.30%	1.70%	0.00%	0.00%	NA
Indica II	465	97.80%	2.20%	0.00%	0.00%	NA
Indica III	913	99.20%	0.80%	0.00%	0.00%	NA
Indica Intermediate	786	96.60%	3.20%	0.13%	0.13%	NA
Temperate Japonica	767	99.70%	0.30%	0.00%	0.00%	NA
Tropical Japonica	504	59.10%	40.90%	0.00%	0.00%	NA
Japonica Intermediate	241	93.40%	6.20%	0.41%	0.00%	NA
VI/Aromatic	96	95.80%	3.10%	0.00%	1.04%	NA
Intermediate	90	85.60%	13.30%	1.11%	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
vg0127041564	A -> G	LOC_Os01g47330.1	upstream_gene_variant ; 227.0bp to feature; MODIFIER	silent_mutation	Average:80.63; most accessible tissue: Callus, score: 93.129	N	N	N	N
vg0127041564	A -> G	LOC_Os01g47310.1	downstream_gene_variant ; 2981.0bp to feature; MODIFIER	silent_mutation	Average:80.63; most accessible tissue: Callus, score: 93.129	N	N	N	N
vg0127041564	A -> G	LOC_Os01g47310-LOC_Os01g47330	intergenic_region ; MODIFIER	silent_mutation	Average:80.63; most accessible tissue: Callus, score: 93.129	N	N	N	N
vg0127041564	A -> DEL	N	N	silent_mutation	Average:80.63; most accessible tissue: Callus, score: 93.129	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)
vg0127041564	A	G	-0.01	-0.02	-0.01	-0.01	-0.01	-0.02

Putative Genotype-Phenotype Associations:

Var ID	LMM P-value	LR P-value	Trait	Subpopulation	Is leadSNP	Publication
vg0127041564	NA	9.30E-08	mr1321	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
vg0127041564	NA	8.07E-07	mr1398	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
vg0127041564	NA	5.90E-07	mr1398	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
vg0127041564	4.74E-06	NA	mr1676	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
vg0127041564	NA	9.09E-07	mr1676	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
vg0127041564	NA	1.58E-14	mr1696	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
vg0127041564	NA	6.73E-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
vg0127041564	NA	2.27E-07	mr1398_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
vg0127041564	NA	1.52E-06	mr1422_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
vg0127041564	NA	1.94E-07	mr1696_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
vg0127041564	NA	9.44E-08	mr1696_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
vg0127041564	NA	6.16E-09	mr1916_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