Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
2	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
3	chr5:90514828..90516837-chr5:90519482..90521543,2	MCF-7	breast:
4	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:
5	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:
6	chr5:90520141..90522077-chr5:90661163..90663612,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10072084	0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs10473943	0.86[AMR][1000 genomes]
rs10473944	0.85[AMR][1000 genomes]
rs10474342	0.83[AMR][1000 genomes]
rs10474343	0.84[AMR][1000 genomes]
rs11740007	0.84[AMR][1000 genomes]
rs11740321	0.87[AMR][1000 genomes]
rs12514092	0.81[AMR][1000 genomes]
rs13164949	0.81[AMR][1000 genomes]
rs1473047	0.88[AMR][1000 genomes]
rs16869606	0.86[AMR][1000 genomes]
rs2367292	0.87[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes]
rs28529720	0.86[AMR][1000 genomes]
rs28637141	0.81[AMR][1000 genomes]
rs28693622	0.81[AMR][1000 genomes]
rs2941893	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2941894	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973477	0.83[AMR][1000 genomes]
rs35554917	0.89[AMR][1000 genomes]
rs4916851	0.81[AMR][1000 genomes]
rs7721684	0.87[AMR][1000 genomes]
rs7731341	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs868556	0.85[AMR][1000 genomes]
rs868557	0.85[AMR][1000 genomes]
rs973332	0.87[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes]
rs997737	0.83[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90515600-90524200	Weak transcription	HMEC	breast
2	chr5:90515600-90524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:90515800-90520600	Weak transcription	HSMMtube	muscle
4	chr5:90519400-90520800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:90519400-90521000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:90519400-90521000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:90519400-90521000	Enhancers	NHDF-Ad	bronchial
8	chr5:90519400-90521200	Enhancers	Hela-S3	cervix
9	chr5:90519600-90520600	Enhancers	HSMM	muscle
10	chr5:90519600-90521000	Enhancers	Osteobl	bone
11	chr5:90519600-90521200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:90519800-90520800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:90520000-90521000	Enhancers	NH-A	brain
14	chr5:90520200-90521200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:90520400-90520600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr5:90520400-90520800	Enhancers	A549	lung
17	chr5:90520400-90521000	Enhancers	Fetal Heart	heart

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