Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57734226..57738825-chr4:57772545..57776428,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1002285	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1277275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1277281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1277282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1277283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1277310	1.00[JPT][hapmap]
rs13146090	1.00[YRI][hapmap]
rs1708762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1708788	0.87[AMR][1000 genomes]
rs1713985	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1713992	0.87[AMR][1000 genomes]
rs1718828	0.96[AMR][1000 genomes]
rs1718862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1718885	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4280804	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4865163	0.87[EUR][1000 genomes]
rs4865164	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4865171	1.00[CHB][hapmap]
rs62310289	0.87[AMR][1000 genomes]
rs7687211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs781546	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs781547	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs781548	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs781550	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs781655	0.81[EUR][1000 genomes]
rs796680	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs796681	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs802920	0.96[AMR][1000 genomes];0.90[EUR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822561	chr4:57736121-57747867	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 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	chr4:57727800-57737600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57727800-57740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:57736400-57737200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:57736400-57737200	Enhancers	Fetal Muscle Trunk	muscle
5	chr4:57736400-57737400	Enhancers	Fetal Muscle Leg	muscle
6	chr4:57736600-57737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:57736800-57738000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:57736800-57738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:57737000-57737200	Enhancers	Adipose Nuclei	Adipose
10	chr4:57737000-57737400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:57737000-57737400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:57737000-57737400	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:57737000-57737400	Enhancers	HSMM	muscle
14	chr4:57737000-57737800	Enhancers	Fetal Brain Female	brain
15	chr4:57737000-57738000	Enhancers	Fetal Brain Male	brain
16	chr4:57737000-57738200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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