Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234216005..234218418-chr2:234218619..234221602,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130561	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10168367	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11892545	1.00[CHB][hapmap]
rs13427703	1.00[CHB][hapmap]
rs1972906	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2124045	1.00[CHB][hapmap]
rs2289473	1.00[CHB][hapmap]
rs2304773	0.84[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28605452	0.85[EUR][1000 genomes]
rs2971865	1.00[CHB][hapmap]
rs3762586	0.85[EUR][1000 genomes]
rs3792104	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs3792105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61062196	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431282	0.92[EUR][1000 genomes]
rs66706635	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73116218	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119905	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7422734	1.00[CHB][hapmap]
rs7588509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838558	1.00[CHB][hapmap]
rs838561	1.00[CHB][hapmap]
rs838562	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234219400-234222600	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:234219600-234222600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:234220200-234221600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:234220200-234222200	Enhancers	GM12878-XiMat	blood
5	chr2:234220200-234222600	Enhancers	Primary B cells from cord blood	blood
6	chr2:234220400-234221600	Weak transcription	Spleen	Spleen
7	chr2:234221000-234221400	Bivalent Enhancer	HepG2	liver

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