Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73330010..73334133-chr6:73345642..73350133,4	K562	blood:
2	chr6:73345711..73347963-chr6:73348189..73350239,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185760	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10485212	1.00[ASN][1000 genomes]
rs10943045	0.86[ASN][1000 genomes]
rs12190092	0.86[ASN][1000 genomes]
rs12193274	0.86[ASN][1000 genomes]
rs12196826	0.86[ASN][1000 genomes]
rs12203288	0.86[ASN][1000 genomes]
rs12214096	0.86[ASN][1000 genomes]
rs16882715	0.85[ASN][1000 genomes]
rs17749123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41265505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307817	0.85[ASN][1000 genomes]
rs56379143	0.85[ASN][1000 genomes]
rs58412450	0.85[ASN][1000 genomes]
rs6934995	0.85[ASN][1000 genomes]
rs73535789	0.85[ASN][1000 genomes]
rs73537770	0.85[ASN][1000 genomes]
rs73537796	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73539789	0.85[ASN][1000 genomes]
rs768790	0.85[ASN][1000 genomes]
rs7749594	0.85[ASN][1000 genomes]
rs953742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73333800-73350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:73334400-73358800	Weak transcription	HSMM	muscle
3	chr6:73334600-73356200	Weak transcription	HMEC	breast
4	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:73337400-73356200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:73338600-73358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:73343400-73351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:73346800-73358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:73347400-73351000	Weak transcription	GM12878-XiMat	blood
11	chr6:73347800-73349400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:73348200-73350200	Enhancers	Fetal Heart	heart
13	chr6:73348600-73349400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:73349200-73349800	Weak transcription	Psoas Muscle	Psoas
15	chr6:73349200-73350000	Enhancers	K562	blood

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