Variant report

Variant	rs2823827
Chromosome Location	chr21:17839781-17839782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10084567	1.00[EUR][1000 genomes]
rs10084608	1.00[EUR][1000 genomes]
rs10084612	1.00[EUR][1000 genomes]
rs12482215	1.00[EUR][1000 genomes]
rs12482914	1.00[EUR][1000 genomes]
rs12483358	1.00[EUR][1000 genomes]
rs12483622	1.00[EUR][1000 genomes]
rs16998825	1.00[MEX][hapmap]
rs16998890	1.00[MEX][hapmap]
rs16999403	1.00[MEX][hapmap]
rs17468498	1.00[MEX][hapmap]
rs2040142	1.00[EUR][1000 genomes]
rs2155623	1.00[MEX][hapmap]
rs2212562	1.00[EUR][1000 genomes]
rs2226435	1.00[EUR][1000 genomes]
rs2823821	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823822	0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823825	1.00[ASW][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823826	0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[EUR][1000 genomes]
rs2823828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823830	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823831	1.00[EUR][1000 genomes]
rs2823832	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2823833	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs2823834	1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823835	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823851	1.00[MEX][hapmap]
rs2823853	1.00[EUR][1000 genomes]
rs2823854	1.00[EUR][1000 genomes]
rs2823855	1.00[EUR][1000 genomes]
rs2823859	1.00[MEX][hapmap]
rs2823860	1.00[EUR][1000 genomes]
rs2823866	1.00[EUR][1000 genomes]
rs28496427	1.00[EUR][1000 genomes]
rs28526796	0.81[AMR][1000 genomes]
rs28643005	0.81[AMR][1000 genomes]
rs28690432	0.81[AMR][1000 genomes]
rs28875621	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2896759	1.00[CHD][hapmap];1.00[EUR][1000 genomes]
rs2896760	1.00[EUR][1000 genomes]
rs57523013	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58072187	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58175294	1.00[EUR][1000 genomes]
rs58304651	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58640456	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60754236	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7277815	1.00[EUR][1000 genomes]
rs7278273	1.00[EUR][1000 genomes]
rs7279732	1.00[MEX][hapmap]
rs7280438	1.00[EUR][1000 genomes]
rs7283241	1.00[EUR][1000 genomes]
rs7283307	1.00[EUR][1000 genomes]
rs7283311	1.00[EUR][1000 genomes]
rs73363406	1.00[EUR][1000 genomes]
rs73363409	1.00[EUR][1000 genomes]
rs73363411	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73366681	1.00[EUR][1000 genomes]
rs73366695	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73368504	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73368506	1.00[EUR][1000 genomes]
rs73368523	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380342	0.81[AMR][1000 genomes]
rs73380344	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8128684	1.00[EUR][1000 genomes]
rs8131413	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs8132247	1.00[MEX][hapmap]
rs8132608	1.00[EUR][1000 genomes]
rs8132951	1.00[EUR][1000 genomes]
rs8132964	0.84[AMR][1000 genomes]
rs8133408	1.00[EUR][1000 genomes]
rs8134501	1.00[EUR][1000 genomes]
rs9305773	1.00[EUR][1000 genomes]
rs990628	1.00[CHD][hapmap]
rs9974386	0.81[AMR][1000 genomes]
rs9975047	0.81[AMR][1000 genomes]
rs9975202	0.81[AMR][1000 genomes]
rs9975582	0.81[AMR][1000 genomes]
rs9976320	1.00[EUR][1000 genomes]
rs9976648	0.81[AMR][1000 genomes]
rs9976683	1.00[EUR][1000 genomes]
rs9977870	1.00[EUR][1000 genomes]
rs9978348	1.00[CHD][hapmap]
rs9980810	0.81[AMR][1000 genomes]
rs9980959	0.81[AMR][1000 genomes]
rs9981475	1.00[EUR][1000 genomes]
rs9981657	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs9982511	0.89[YRI][hapmap];0.91[AMR][1000 genomes]
rs9984639	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
2	chr21:17830200-17842200	Weak transcription	Psoas Muscle	Psoas
3	chr21:17830400-17845600	Weak transcription	Right Atrium	heart
4	chr21:17835400-17846400	Weak transcription	Left Ventricle	heart
5	chr21:17836400-17846200	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:17836800-17848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr21:17836800-17848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:17837000-17840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:17837400-17848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:17838000-17846200	Weak transcription	Ovary	ovary
11	chr21:17838000-17850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:17839200-17840400	Enhancers	HUVEC	blood vessel
13	chr21:17839200-17841000	Enhancers	Osteobl	bone
14	chr21:17839200-17841400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:17839400-17843200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:17839600-17841000	Enhancers	Hela-S3	cervix

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