Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80583880..80586237-chr6:80586921..80589509,2	MCF-7	breast:
2	chr6:80577959..80580872-chr6:80588146..80590140,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELOVL4-1	chr6:80587881-80588239	NONHSAT113712

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1543475	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543476	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543477	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs163980	0.97[ASN][1000 genomes]
rs1849275	0.81[EUR][1000 genomes]
rs2164166	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs239522	0.91[CHB][hapmap]
rs2874814	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4706808	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706810	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4706814	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706815	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706816	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7744165	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9448847	0.80[ASN][1000 genomes]
rs9448848	0.80[ASN][1000 genomes]
rs9448849	0.80[ASN][1000 genomes]
rs969693	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3693359	chr6:80539454-80606537	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80585600-80588600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:80585600-80588800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:80585600-80589000	Enhancers	Liver	Liver
4	chr6:80587600-80589400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:80587600-80589800	Enhancers	HMEC	breast
6	chr6:80587800-80588200	Enhancers	Fetal Heart	heart
7	chr6:80587800-80588400	Enhancers	Lung	lung
8	chr6:80587800-80588600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:80587800-80588600	Enhancers	Right Atrium	heart
10	chr6:80587800-80589200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:80587800-80589200	Enhancers	Esophagus	oesophagus
12	chr6:80587800-80589800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:80587800-80589800	Enhancers	NHEK	skin
14	chr6:80587800-80590600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:80588000-80588400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:80588000-80588400	Enhancers	Pancreas	Pancrea
17	chr6:80588000-80588600	Enhancers	Adipose Nuclei	Adipose
18	chr6:80588000-80588600	Enhancers	Right Ventricle	heart
19	chr6:80588000-80589200	Enhancers	Placenta	Placenta
20	chr6:80588000-80589400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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