Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:12285346..12288337-chr6:12314875..12317464,2	MCF-7	breast:
2	chr6:12311955..12317813-chr6:12323964..12327057,7	MCF-7	breast:
3	chr6:12315191..12317031-chr6:12318499..12320093,2	MCF-7	breast:
4	chr6:12315560..12317298-chr6:12323105..12324683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000218893	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10947935	0.89[ASN][1000 genomes]
rs10947946	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11753558	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11755836	0.88[ASN][1000 genomes]
rs16872608	0.83[ASN][1000 genomes]
rs17765653	0.91[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4711655	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4714414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4714418	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4714419	0.83[ASN][1000 genomes]
rs62389535	0.89[ASN][1000 genomes]
rs62389538	0.85[ASN][1000 genomes]
rs6458193	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6921790	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9357344	0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9357346	0.84[CEU][hapmap]
rs9369245	0.83[ASN][1000 genomes]
rs9369246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9369262	0.83[CEU][hapmap]
rs9381013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9381015	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9381033	0.91[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9381035	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9394741	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4711654	EDN1	Cis_1M	lymphoblastoid	RTeQTL
rs4711654	RN7SKP293	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12314800-12319000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:12315200-12319000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:12315200-12319000	Weak transcription	Lung	lung
4	chr6:12315200-12327800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:12315600-12319000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:12315800-12318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:12316200-12317600	Weak transcription	A549	lung

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