Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:84542985..84545257-chr7:84546597..84549021,2	K562	blood:
2	chr7:84547551..84549069-chr7:84551273..84552915,2	K562	blood:
3	chr7:84547551..84550481-chr7:84551151..84552773,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10238680	0.81[ASN][1000 genomes]
rs10253019	0.83[EUR][1000 genomes]
rs10254761	0.84[ASN][1000 genomes]
rs10265448	0.84[ASN][1000 genomes]
rs1318546	0.81[ASN][1000 genomes]
rs13437628	0.84[ASN][1000 genomes]
rs1594395	0.84[ASN][1000 genomes]
rs17159404	0.81[ASN][1000 genomes]
rs1811353	0.81[ASN][1000 genomes]
rs1864526	0.84[ASN][1000 genomes]
rs1864527	0.81[ASN][1000 genomes]
rs1997302	0.81[ASN][1000 genomes]
rs2158726	0.83[EUR][1000 genomes]
rs2293574	0.81[ASN][1000 genomes]
rs2372504	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372508	0.83[EUR][1000 genomes]
rs4286890	0.81[ASN][1000 genomes]
rs4623352	0.80[AFR][1000 genomes]
rs4728568	0.84[ASN][1000 genomes]
rs4732590	0.81[ASN][1000 genomes]
rs4732591	0.81[ASN][1000 genomes]
rs4732592	0.84[ASN][1000 genomes]
rs59348972	0.84[ASN][1000 genomes]
rs6468008	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73713553	0.84[ASN][1000 genomes]
rs73713556	0.84[ASN][1000 genomes]
rs7780132	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7796898	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782894	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs934302	0.81[ASN][1000 genomes]
rs9649676	0.82[AFR][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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84542800-84548800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:84542800-84549400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:84542800-84557000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:84543200-84550600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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