Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:145199350..145203488-chr6:145205369..145208032,3	K562	blood:
2	chr6:145199307..145201397-chr6:145215115..145217715,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1111806	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11155383	1.00[AMR][1000 genomes]
rs11963077	1.00[ASN][1000 genomes]
rs17074716	1.00[ASN][1000 genomes]
rs34381320	1.00[ASN][1000 genomes]
rs4398764	1.00[MEX][hapmap]
rs59534261	1.00[ASN][1000 genomes]
rs61282636	1.00[ASN][1000 genomes]
rs6570655	1.00[AMR][1000 genomes]
rs6903651	1.00[AMR][1000 genomes]
rs6924599	1.00[AMR][1000 genomes]
rs6931349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555286	1.00[ASN][1000 genomes]
rs73555292	1.00[ASN][1000 genomes]
rs73779037	1.00[ASN][1000 genomes]
rs73779039	1.00[ASN][1000 genomes]
rs73779043	1.00[ASN][1000 genomes]
rs73779324	1.00[ASN][1000 genomes]
rs73779326	1.00[ASN][1000 genomes]
rs73779504	1.00[ASN][1000 genomes]
rs7753793	1.00[AMR][1000 genomes]
rs7753814	1.00[AMR][1000 genomes]
rs7762384	1.00[MEX][hapmap]
rs7771817	1.00[AMR][1000 genomes]
rs869590	1.00[MEX][hapmap]
rs9484919	0.89[AMR][1000 genomes]
rs9497108	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv464070	chr6:145184504-145214952	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv604823	chr6:145184504-145214952	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv432966	chr6:145191307-145201307	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1850377	chr6:145199259-145319640	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145196200-145199600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:145199400-145201400	Enhancers	Fetal Heart	heart

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