Variant report

Variant	rs2831133
Chromosome Location	chr21:29090569-29090570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1074306	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1431361	1.00[AMR][1000 genomes]
rs1431362	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1431363	1.00[AMR][1000 genomes]
rs1431365	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16981091	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2831104	0.89[AMR][1000 genomes]
rs2831112	0.89[AMR][1000 genomes]
rs2831113	0.89[AMR][1000 genomes]
rs2831120	0.89[AMR][1000 genomes]
rs2831121	0.89[AMR][1000 genomes]
rs2831128	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831129	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831130	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831131	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831132	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831136	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2831139	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28429277	1.00[EUR][1000 genomes]
rs28447510	0.89[AMR][1000 genomes]
rs28464665	0.89[AMR][1000 genomes]
rs28672074	1.00[AMR][1000 genomes]
rs28709935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28796720	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5002119	1.00[AMR][1000 genomes]
rs56774116	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61132533	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6516778	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275805	0.89[AMR][1000 genomes]
rs7277044	0.89[AMR][1000 genomes]
rs7277941	0.82[AFR][1000 genomes]
rs7279944	0.87[AMR][1000 genomes]
rs7280183	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7282926	0.89[AMR][1000 genomes]
rs7283490	1.00[AMR][1000 genomes]
rs73388102	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390062	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134876	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9305332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9974260	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9976745	0.89[AMR][1000 genomes]
rs9977384	0.89[AMR][1000 genomes]
rs9978827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982568	0.89[AMR][1000 genomes]
rs9982894	0.89[AMR][1000 genomes]
rs9982905	0.89[AMR][1000 genomes]
rs9983150	0.89[AMR][1000 genomes]
rs9983153	0.89[AMR][1000 genomes]
rs9983357	0.89[AMR][1000 genomes]
rs9984149	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984742	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984856	0.89[AMR][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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29086000-29094200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:29086200-29094200	Weak transcription	HMEC	breast

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