Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223574260..223577674-chr1:223613937..223618124,4	MCF-7	breast:
2	chr1:223536303..223538270-chr1:223574488..223576964,2	K562	blood:

Variant related genes	Relation type
ENSG00000143502	Chromatin interaction

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

rs_ID	r²[population]
rs11261270	0.81[EUR][1000 genomes]
rs1547788	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1619227	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1713220	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17163828	0.85[AMR][1000 genomes]
rs17163831	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1772284	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2138966	0.80[EUR][1000 genomes]
rs2459849	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487521	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2678377	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59355120	0.82[EUR][1000 genomes]
rs61838249	0.80[AMR][1000 genomes]
rs61839876	0.82[EUR][1000 genomes]
rs61839877	0.81[EUR][1000 genomes]
rs61839878	0.81[EUR][1000 genomes]
rs61839879	0.82[EUR][1000 genomes]
rs6604709	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7555607	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs870486	0.86[AMR][1000 genomes]
rs9442046	0.86[AMR][1000 genomes];0.88[ASN][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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223574400-223575000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:223574400-223575000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:223574400-223575200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:223574400-223575200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:223574600-223575600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223574800-223575000	Enhancers	Primary T cells from cord blood	blood
7	chr1:223574800-223575000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:223574800-223575200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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