Variant report

Variant	rs8131413
Chromosome Location	chr21:17891393-17891394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11910443	1.00[EUR][1000 genomes]
rs11910489	1.00[EUR][1000 genomes]
rs11911281	1.00[EUR][1000 genomes]
rs16998528	1.00[EUR][1000 genomes]
rs16998825	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16998890	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs16999201	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999403	0.84[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17000077	1.00[EUR][1000 genomes]
rs17000181	1.00[EUR][1000 genomes]
rs17000784	1.00[EUR][1000 genomes]
rs17468498	1.00[MEX][hapmap]
rs2032286	0.83[AMR][1000 genomes]
rs2155623	1.00[MEX][hapmap]
rs2243706	1.00[EUR][1000 genomes]
rs2823826	1.00[MEX][hapmap]
rs2823827	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs2823832	1.00[MEX][hapmap]
rs2823833	1.00[MEX][hapmap]
rs2823834	1.00[MEX][hapmap]
rs2823851	1.00[MEX][hapmap]
rs2823859	1.00[MEX][hapmap]
rs2823935	1.00[EUR][1000 genomes]
rs2896759	1.00[CHD][hapmap]
rs4380331	1.00[EUR][1000 genomes]
rs57784792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58347042	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6517701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6517702	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7275723	1.00[EUR][1000 genomes]
rs7277099	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7277211	1.00[EUR][1000 genomes]
rs7279732	1.00[MEX][hapmap]
rs73367454	1.00[EUR][1000 genomes]
rs73367494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73893739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8127360	1.00[EUR][1000 genomes]
rs8128705	1.00[EUR][1000 genomes]
rs8128729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8129493	1.00[EUR][1000 genomes]
rs8129644	1.00[EUR][1000 genomes]
rs8130130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8131420	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs8132247	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs990628	1.00[CHD][hapmap]
rs9978348	1.00[CHD][hapmap]
rs9981657	1.00[MEX][hapmap]
rs9984639	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17879000-17891400	Weak transcription	Fetal Brain Male	brain
2	chr21:17882600-17894600	Weak transcription	Hela-S3	cervix
3	chr21:17887000-17906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:17887600-17894600	Weak transcription	NH-A	brain
5	chr21:17888600-17892400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:17889600-17891400	Weak transcription	Ovary	ovary
7	chr21:17889800-17894200	Weak transcription	Osteobl	bone
8	chr21:17889800-17902800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:17890200-17894600	Weak transcription	A549	lung
10	chr21:17890400-17894400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:17891200-17891400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:17891200-17892000	Enhancers	NHDF-Ad	bronchial
13	chr21:17891200-17894800	Weak transcription	Colon Smooth Muscle	Colon

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