Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:121077048..121077919-chr4:122017135..122018169,3	MCF-7	breast:
2	chr4:121077041..121077948-chr4:122017982..122018526,3	K562	blood:
3	chr4:121077293..121077941-chr4:121207746..121208633,3	MCF-7	breast:
4	chr4:120987142..120989287-chr4:121074919..121077571,2	K562	blood:
5	chr4:120991469..120992437-chr4:121077071..121077874,2	MCF-7	breast:
6	chr4:121077068..121077961-chr4:121639964..121640817,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250938	Chromatin interaction
ENSG00000164109	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10518353	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11933886	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11936705	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16997627	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17010263	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17010781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011063	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56903710	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60124563	0.86[ASN][1000 genomes]
rs61353371	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6843657	0.86[EUR][1000 genomes]
rs72918144	0.97[EUR][1000 genomes]
rs7672809	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7694700	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9999978	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv1845528	chr4:121034480-121185834	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121068800-121084000	Weak transcription	Psoas Muscle	Psoas
2	chr4:121076800-121077800	Enhancers	Osteobl	bone
3	chr4:121077000-121077400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:121077200-121077400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:121077200-121077400	Enhancers	Brain Angular Gyrus	brain
6	chr4:121077200-121077600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:121077200-121077600	Enhancers	Fetal Lung	lung
8	chr4:121077200-121077800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:121077200-121078000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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