Variant report

Variant	rs2116130
Chromosome Location	chr8:68265356-68265357
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68263913..68265547-chr8:68275610..68277959,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10105795	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10113752	0.84[ASN][1000 genomes]
rs10504401	0.80[ASN][1000 genomes]
rs11986169	0.87[ASN][1000 genomes]
rs11995348	0.89[ASN][1000 genomes]
rs12675528	0.87[ASN][1000 genomes]
rs12678025	0.87[ASN][1000 genomes]
rs12678865	0.87[ASN][1000 genomes]
rs12679614	0.87[ASN][1000 genomes]
rs12681292	0.92[ASN][1000 genomes]
rs13253205	0.97[ASN][1000 genomes]
rs13264289	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13275593	0.89[ASN][1000 genomes]
rs13277736	0.85[ASN][1000 genomes]
rs1821026	0.87[ASN][1000 genomes]
rs2008936	0.83[ASN][1000 genomes]
rs28640047	0.87[ASN][1000 genomes]
rs35904049	0.87[ASN][1000 genomes]
rs56186469	0.87[ASN][1000 genomes]
rs60196076	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6472297	0.81[ASN][1000 genomes]
rs6987724	0.87[ASN][1000 genomes]
rs6992604	0.92[ASN][1000 genomes]
rs6993324	0.87[ASN][1000 genomes]
rs7013561	0.87[ASN][1000 genomes]
rs718348	0.99[ASN][1000 genomes]
rs72654960	0.87[ASN][1000 genomes]
rs7812777	0.87[ASN][1000 genomes]
rs7813810	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818520	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7820370	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822637	0.91[ASN][1000 genomes]
rs7823436	0.87[ASN][1000 genomes]
rs7830183	0.86[ASN][1000 genomes]
rs7841756	0.90[ASN][1000 genomes]
rs7844125	0.87[ASN][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr8:68257200-68268600	Weak transcription	Primary T cells from cord blood	blood

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