Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53611367..53614111-chr6:53617026..53619641,3	MCF-7	breast:
2	chr6:53617028..53618727-chr6:53619608..53622037,2	K562	blood:

Variant related genes	Relation type
ENSG00000227885	Chromatin interaction

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10948779	0.83[EUR][1000 genomes]
rs11755346	0.94[EUR][1000 genomes]
rs13220665	0.94[EUR][1000 genomes]
rs3000996	0.89[EUR][1000 genomes]
rs3000997	0.83[EUR][1000 genomes]
rs3000999	0.82[EUR][1000 genomes]
rs3001000	0.83[EUR][1000 genomes]
rs3001001	0.83[EUR][1000 genomes]
rs3001002	0.81[EUR][1000 genomes]
rs3001010	0.89[EUR][1000 genomes]
rs3003500	0.89[EUR][1000 genomes]
rs3003501	0.89[EUR][1000 genomes]
rs34861916	0.94[EUR][1000 genomes]
rs34880762	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35389351	0.90[EUR][1000 genomes]
rs35517171	0.94[EUR][1000 genomes]
rs35756855	0.91[EUR][1000 genomes]
rs3813849	0.89[EUR][1000 genomes]
rs4265033	0.81[EUR][1000 genomes]
rs4276502	0.82[EUR][1000 genomes]
rs4321822	0.88[EUR][1000 genomes]
rs4326237	0.89[EUR][1000 genomes]
rs4336450	0.83[EUR][1000 genomes]
rs4489155	0.89[EUR][1000 genomes]
rs4518484	0.85[ASN][1000 genomes]
rs4615391	0.87[EUR][1000 genomes]
rs4715424	0.89[EUR][1000 genomes]
rs59641455	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60035355	0.94[EUR][1000 genomes]
rs6458957	0.83[EUR][1000 genomes]
rs6458958	0.81[EUR][1000 genomes]
rs6458959	0.81[EUR][1000 genomes]
rs6899752	0.94[EUR][1000 genomes]
rs6920743	0.81[EUR][1000 genomes]
rs6925836	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71555560	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7759946	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7763147	0.81[EUR][1000 genomes]
rs7769893	0.83[EUR][1000 genomes]
rs9382234	0.89[EUR][1000 genomes]
rs9382237	0.83[EUR][1000 genomes]

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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr6:53601600-53638000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:53606400-53619600	Weak transcription	Right Atrium	heart
3	chr6:53612200-53617400	Weak transcription	Placenta	Placenta
4	chr6:53614000-53618200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:53614800-53618800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:53615800-53617400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:53616200-53618800	Enhancers	HMEC	breast
8	chr6:53616600-53617400	Enhancers	NHEK	skin
9	chr6:53616600-53619400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:53616800-53617400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:53616800-53619000	Enhancers	Hela-S3	cervix

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