Variant report

Variant	rs12291219
Chromosome Location	chr11:71229606-71229607
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71192889..71195578-chr11:71229380..71232124,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10160376	1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160536	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10450661	1.00[EUR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270619	1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12277617	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12285168	1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	1.00[EUR][1000 genomes]
rs12289365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs17161531	1.00[EUR][1000 genomes]
rs2276355	0.96[ASN][1000 genomes]
rs2298775	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364616	0.96[ASN][1000 genomes]
rs28364772	0.86[ASN][1000 genomes]
rs28364773	0.86[ASN][1000 genomes]
rs28468070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28655145	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3794059	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794061	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794063	0.96[ASN][1000 genomes]
rs3794068	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3814732	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3819215	0.96[ASN][1000 genomes]
rs56012338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56120850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56855873	0.96[ASN][1000 genomes]
rs57174491	1.00[ASN][1000 genomes]
rs57615441	0.96[ASN][1000 genomes]
rs58878631	1.00[ASN][1000 genomes]
rs59157735	0.83[ASN][1000 genomes]
rs59319709	1.00[ASN][1000 genomes]
rs59601821	1.00[EUR][1000 genomes]
rs59948897	0.96[ASN][1000 genomes]
rs60600601	1.00[ASN][1000 genomes]
rs61175194	1.00[ASN][1000 genomes]
rs61440863	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7939135	1.00[ASN][1000 genomes]
rs7939596	1.00[ASN][1000 genomes]
rs7950649	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7950991	1.00[EUR][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr11:71211800-71232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:71213200-71232200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:71215600-71236600	Weak transcription	Brain Anterior Caudate	brain
4	chr11:71216400-71235400	Weak transcription	Brain Substantia Nigra	brain
5	chr11:71222000-71230400	Weak transcription	HSMMtube	muscle
6	chr11:71228000-71232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:71229600-71232200	Weak transcription	Brain Inferior Temporal Lobe	brain

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