Variant report

Variant	rs484066
Chromosome Location	chr2:169782481-169782482
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169775702..169778963-chr2:169780525..169783462,3	K562	blood:
2	chr2:169782114..169785281-chr2:169786393..169790786,5	K562	blood:
3	chr2:169782114..169784208-chr2:169788090..169790755,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1101533	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs13389076	0.88[ASN][1000 genomes]
rs1581397	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs16856247	0.84[ASN][1000 genomes]
rs16856252	0.82[ASN][1000 genomes]
rs2250677	0.81[ASN][1000 genomes]
rs2544367	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2685803	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2685804	0.82[ASN][1000 genomes]
rs2685805	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2685806	0.81[ASN][1000 genomes]
rs2685807	0.81[ASN][1000 genomes]
rs2685808	0.81[ASN][1000 genomes]
rs2685810	0.81[ASN][1000 genomes]
rs2685811	0.81[ASN][1000 genomes]
rs2685812	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2685813	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2685814	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs28819151	0.80[ASN][1000 genomes]
rs2947987	0.87[ASN][1000 genomes]
rs3755158	0.81[ASN][1000 genomes]
rs472614	0.89[ASN][1000 genomes]
rs475612	0.84[EUR][1000 genomes]
rs479682	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs480562	0.86[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs482508	0.83[ASN][1000 genomes]
rs485094	0.91[EUR][1000 genomes]
rs486981	0.91[EUR][1000 genomes]
rs494874	0.89[EUR][1000 genomes]
rs495714	0.91[ASN][1000 genomes]
rs496550	0.91[ASN][1000 genomes]
rs497692	0.91[ASN][1000 genomes]
rs502570	0.84[EUR][1000 genomes]
rs503931	0.91[ASN][1000 genomes]
rs504979	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs508506	0.90[EUR][1000 genomes]
rs518598	0.84[EUR][1000 genomes]
rs519035	0.91[ASN][1000 genomes]
rs519887	0.91[ASN][1000 genomes]
rs527150	0.91[ASN][1000 genomes]
rs537183	0.83[EUR][1000 genomes]
rs551754	0.89[ASN][1000 genomes]
rs552976	0.90[EUR][1000 genomes]
rs555975	0.89[ASN][1000 genomes]
rs557462	0.83[EUR][1000 genomes]
rs563694	0.83[EUR][1000 genomes]
rs565412	0.85[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs566879	0.91[EUR][1000 genomes]
rs567074	0.85[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs569805	0.91[EUR][1000 genomes]
rs569829	0.90[EUR][1000 genomes]
rs579060	0.90[EUR][1000 genomes]
rs579275	0.91[ASN][1000 genomes]
rs580670	0.84[EUR][1000 genomes]
rs60415045	0.80[ASN][1000 genomes]
rs73972707	0.80[ASN][1000 genomes]
rs853772	0.87[JPT][hapmap]
rs853773	0.95[JPT][hapmap]
rs853776	0.87[JPT][hapmap]
rs853778	0.87[JPT][hapmap]
rs853779	0.82[JPT][hapmap]
rs853780	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs853781	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs853783	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs853784	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs853785	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs853786	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs853787	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs853788	0.80[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs853789	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs853790	0.81[ASN][1000 genomes]
rs860510	0.81[ASN][1000 genomes]
rs862662	0.80[CHB][hapmap];0.82[JPT][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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169776800-169785000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:169782000-169784600	Genic enhancers	Liver	Liver
3	chr2:169782400-169783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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