Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56036866..56038749-chr2:56067694..56069314,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-7	chr2:56038389-56038830	NONHSAT070805

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10173401	0.81[AMR][1000 genomes]
rs10173540	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180043	0.90[ASN][1000 genomes]
rs10189460	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10196888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104451	0.96[ASN][1000 genomes]
rs13394642	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13404859	0.81[AMR][1000 genomes]
rs13409792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13413609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13426650	0.87[ASN][1000 genomes]
rs2099188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs28744383	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4519567	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs58754091	0.96[ASN][1000 genomes]
rs6723695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807729	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72807735	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72807739	0.87[ASN][1000 genomes]
rs72807740	0.87[ASN][1000 genomes]
rs7604558	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs875997	0.96[ASN][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:56036800-56038800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:56036800-56038800	Enhancers	A549	lung
4	chr2:56037000-56038800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56037000-56038800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:56037000-56038800	Enhancers	Hela-S3	cervix
7	chr2:56037200-56038800	Enhancers	NHEK	skin
8	chr2:56037600-56038800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:56037600-56038800	Enhancers	HMEC	breast
10	chr2:56037800-56038800	Enhancers	HSMM	muscle
11	chr2:56037800-56038800	Enhancers	Osteobl	bone
12	chr2:56038000-56039000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:56038000-56039000	Weak transcription	Aorta	Aorta
14	chr2:56038400-56038800	Enhancers	NHLF	lung
15	chr2:56038600-56038800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:56038600-56039000	Enhancers	Muscle Satellite Cultured Cells	--

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