Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72381383..72383690-chr9:72387681..72389643,2	K562	blood:
2	chr9:72373403..72375202-chr9:72381871..72384106,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188647	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10780598	0.86[GIH][hapmap]
rs10868041	0.86[AMR][1000 genomes]
rs11139997	0.86[GIH][hapmap]
rs11140181	0.81[AMR][1000 genomes]
rs11140185	0.86[AMR][1000 genomes]
rs11140189	0.81[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes]
rs11140204	0.86[AMR][1000 genomes]
rs11140205	0.86[AMR][1000 genomes]
rs11140206	0.86[AMR][1000 genomes]
rs11140208	0.86[AMR][1000 genomes]
rs11791457	0.86[AMR][1000 genomes]
rs11792104	0.86[AMR][1000 genomes]
rs11793130	0.86[GIH][hapmap]
rs12376529	0.83[AMR][1000 genomes]
rs13287102	0.86[GIH][hapmap]
rs13293770	0.86[AMR][1000 genomes]
rs2026795	0.86[GIH][hapmap]
rs2309531	0.86[AFR][1000 genomes]
rs3904635	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4273913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56040923	0.86[AMR][1000 genomes]
rs7027072	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7866040	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72382400-72384400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:72382800-72384400	Enhancers	Osteobl	bone
3	chr9:72383000-72384200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:72383000-72384400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:72383000-72384400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:72383200-72383800	Enhancers	Adipose Nuclei	Adipose
7	chr9:72383200-72384200	Enhancers	HSMMtube	muscle
8	chr9:72383200-72384400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:72383200-72384400	Enhancers	NHDF-Ad	bronchial
10	chr9:72383400-72383800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:72383400-72384200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:72383400-72384200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:72383400-72384200	Enhancers	HSMM	muscle

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