Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171771604..171774137-chr1:171780038..171783681,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213060	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10913680	1.00[EUR][1000 genomes]
rs12058617	1.00[EUR][1000 genomes]
rs12090298	1.00[EUR][1000 genomes]
rs16843624	1.00[EUR][1000 genomes]
rs41476749	1.00[EUR][1000 genomes]
rs55703533	1.00[EUR][1000 genomes]
rs55835861	1.00[EUR][1000 genomes]
rs57282067	1.00[EUR][1000 genomes]
rs57446042	1.00[EUR][1000 genomes]
rs58982503	1.00[EUR][1000 genomes]
rs59060176	1.00[EUR][1000 genomes]
rs59123048	1.00[EUR][1000 genomes]
rs59256724	1.00[EUR][1000 genomes]
rs59351676	1.00[EUR][1000 genomes]
rs59949348	1.00[EUR][1000 genomes]
rs60443600	1.00[EUR][1000 genomes]
rs60495803	1.00[EUR][1000 genomes]
rs60897561	1.00[EUR][1000 genomes]
rs61013259	1.00[EUR][1000 genomes]
rs61296253	1.00[EUR][1000 genomes]
rs61328888	1.00[EUR][1000 genomes]
rs61359014	1.00[EUR][1000 genomes]
rs6681322	0.92[LWK][hapmap];0.81[AFR][1000 genomes]
rs6688701	1.00[EUR][1000 genomes]
rs6698195	1.00[EUR][1000 genomes]
rs73041963	1.00[EUR][1000 genomes]
rs73041964	1.00[EUR][1000 genomes]
rs73044063	1.00[EUR][1000 genomes]
rs74126542	1.00[EUR][1000 genomes]
rs74126543	1.00[EUR][1000 genomes]
rs74126545	1.00[EUR][1000 genomes]
rs9970108	1.00[EUR][1000 genomes]
rs9970212	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]

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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171768400-171785600	Weak transcription	Gastric	stomach
2	chr1:171770200-171794600	Weak transcription	Primary T cells from cord blood	blood
3	chr1:171770600-171784800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:171773000-171796000	Weak transcription	Pancreas	Pancrea
5	chr1:171775000-171787000	Weak transcription	Left Ventricle	heart
6	chr1:171775400-171783800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:171777800-171786200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:171777800-171786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:171777800-171786400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:171782000-171784000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:171782600-171783400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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