Variant report

Variant	rs57274057
Chromosome Location	chr21:29076371-29076372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10482987	1.00[EUR][1000 genomes]
rs10482988	1.00[EUR][1000 genomes]
rs11911239	1.00[EUR][1000 genomes]
rs12482414	1.00[EUR][1000 genomes]
rs1431361	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1431362	0.89[AFR][1000 genomes]
rs1431363	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1431365	1.00[EUR][1000 genomes]
rs1431367	1.00[EUR][1000 genomes]
rs16981091	1.00[EUR][1000 genomes]
rs16981099	1.00[EUR][1000 genomes]
rs2831069	1.00[EUR][1000 genomes]
rs2831104	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2831110	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2831112	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2831113	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2831120	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2831121	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2831128	0.89[AFR][1000 genomes]
rs2831129	0.89[AFR][1000 genomes]
rs2831130	0.89[AFR][1000 genomes]
rs2831136	1.00[EUR][1000 genomes]
rs28371131	1.00[EUR][1000 genomes]
rs28429277	0.89[AFR][1000 genomes]
rs28447510	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28464665	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28672074	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28709935	1.00[EUR][1000 genomes]
rs28796720	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5002119	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56774116	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57431839	1.00[EUR][1000 genomes]
rs57645042	1.00[EUR][1000 genomes]
rs59123522	1.00[EUR][1000 genomes]
rs59438303	1.00[EUR][1000 genomes]
rs60393902	1.00[EUR][1000 genomes]
rs6516773	1.00[EUR][1000 genomes]
rs6516778	1.00[EUR][1000 genomes]
rs6516779	1.00[EUR][1000 genomes]
rs6516780	1.00[EUR][1000 genomes]
rs7275530	1.00[EUR][1000 genomes]
rs7275725	0.87[AFR][1000 genomes]
rs7275805	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7277044	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7277941	1.00[EUR][1000 genomes]
rs7278044	1.00[EUR][1000 genomes]
rs7279786	1.00[EUR][1000 genomes]
rs7279812	1.00[EUR][1000 genomes]
rs7279944	1.00[EUR][1000 genomes]
rs7280183	1.00[EUR][1000 genomes]
rs7282084	1.00[EUR][1000 genomes]
rs7282926	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7283490	0.84[AFR][1000 genomes]
rs73388102	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73390062	0.81[AFR][1000 genomes]
rs73901891	1.00[EUR][1000 genomes]
rs73901894	1.00[EUR][1000 genomes]
rs8128349	1.00[EUR][1000 genomes]
rs8133210	1.00[EUR][1000 genomes]
rs8134876	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9305332	1.00[EUR][1000 genomes]
rs9974260	1.00[EUR][1000 genomes]
rs9976745	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977384	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978827	1.00[EUR][1000 genomes]
rs9981617	1.00[EUR][1000 genomes]
rs9982568	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982894	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9982905	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9983028	1.00[EUR][1000 genomes]
rs9983150	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9983153	1.00[EUR][1000 genomes]
rs9983357	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9983945	1.00[EUR][1000 genomes]
rs9984742	1.00[EUR][1000 genomes]
rs9984856	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv913670	chr21:29022265-29525767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1059134	chr21:29061408-29188185	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29074400-29080000	Weak transcription	Fetal Lung	lung
2	chr21:29075600-29077000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:29075800-29076600	Enhancers	NHDF-Ad	bronchial
4	chr21:29076000-29076600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:29076000-29077600	Enhancers	Colon Smooth Muscle	Colon

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