Variant report

Variant	rs2184232
Chromosome Location	chr1:72046723-72046724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1041639	0.91[CHB][hapmap]
rs10493485	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10889921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209788	0.87[CHB][hapmap]
rs11209793	0.91[CHB][hapmap]
rs11209800	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11209801	0.97[EUR][1000 genomes]
rs12021677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043828	0.91[CHB][hapmap]
rs12058909	0.91[CHB][hapmap]
rs1213521	1.00[CEU][hapmap]
rs12139658	0.94[EUR][1000 genomes]
rs12564885	0.97[EUR][1000 genomes]
rs12742274	0.91[EUR][1000 genomes]
rs12757106	1.00[CEU][hapmap]
rs12757229	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1333998	0.94[EUR][1000 genomes]
rs1333999	0.94[EUR][1000 genomes]
rs1334000	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1334001	0.94[EUR][1000 genomes]
rs1335223	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1335224	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1517752	0.92[EUR][1000 genomes]
rs17091348	0.91[CHB][hapmap]
rs1855647	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs357223	0.86[CHB][hapmap]
rs357230	0.87[CHB][hapmap]
rs357233	0.91[CHB][hapmap]
rs3843259	0.91[CHB][hapmap]
rs4649940	0.91[CHB][hapmap]
rs4649941	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs6424431	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6424432	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6424433	0.94[EUR][1000 genomes]
rs6656539	0.94[EUR][1000 genomes]
rs6664443	0.92[EUR][1000 genomes]
rs6668345	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6700555	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7553565	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs7553624	0.91[CHB][hapmap]
rs928615	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs951950	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs982527	0.91[CHB][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	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72040800-72062000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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