Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12302992..12304861-chr6:12320967..12324603,3	MCF-7	breast:
2	chr6:12298288..12300971-chr6:12301948..12304812,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10947948	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10947949	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11753558	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12055484	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17765653	0.87[EUR][1000 genomes]
rs4379286	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711654	0.81[EUR][1000 genomes]
rs4711655	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4714383	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714384	0.93[ASN][1000 genomes]
rs4714418	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6458187	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6458193	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6921790	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6932390	0.93[EUR][1000 genomes]
rs9357346	0.94[EUR][1000 genomes]
rs9369262	0.94[EUR][1000 genomes]
rs9381015	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9381033	0.87[EUR][1000 genomes]
rs9381035	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][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	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
2	nsv525684	chr6:12301462-12307264	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9394741	EDN1	Cis_1M	lymphoblastoid	RTeQTL
rs9394741	RN7SKP293	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
2	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
3	chr6:12298200-12305600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:12298600-12304000	Weak transcription	NHEK	skin
5	chr6:12300800-12304200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:12302800-12304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:12302800-12304000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:12303200-12304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:12303800-12304600	Strong transcription	A549	lung

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