Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10436832..10439225-chr12:10509141..10511407,2	K562	blood:

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

rs_ID	r²[population]
rs10845084	0.82[AMR][1000 genomes]
rs10845089	0.94[CEU][hapmap]
rs10845090	0.94[CEU][hapmap]
rs10845091	0.94[CEU][hapmap]
rs11053699	0.89[AMR][1000 genomes]
rs11053704	0.89[AMR][1000 genomes]
rs11053711	0.82[AMR][1000 genomes]
rs11053712	0.94[CEU][hapmap]
rs11613226	0.94[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12370398	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12372618	0.94[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17808261	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17808267	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17808345	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3898122	0.84[AMR][1000 genomes]
rs4237965	0.94[CEU][hapmap]
rs4329754	0.84[AMR][1000 genomes]
rs56146423	0.89[AMR][1000 genomes]
rs56374289	0.82[AMR][1000 genomes]
rs61919792	0.89[AMR][1000 genomes]
rs61919793	0.81[AMR][1000 genomes]
rs7953558	0.94[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv557454	chr12:10417260-10440885	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10429000-10442000	Weak transcription	Left Ventricle	heart
2	chr12:10436400-10441600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:10437800-10438800	Enhancers	Primary T cells from cord blood	blood
4	chr12:10437800-10439400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:10438200-10439000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:10438200-10441400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:10438400-10438800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:10438400-10438800	Enhancers	HSMM	muscle
9	chr12:10438400-10439000	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:10438600-10441400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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