Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116964911-116973650	H1-hESC	embryonic stem cell:	embryo
2	7:115847372-115857098..7:116964911-116973650	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10264075	0.83[ASN][1000 genomes]
rs1029396	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953843	0.85[EUR][1000 genomes]
rs10953844	0.85[EUR][1000 genomes]
rs11769166	0.85[EUR][1000 genomes]
rs12537601	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237721	0.85[EUR][1000 genomes]
rs2239957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283054	0.85[EUR][1000 genomes]
rs254536	0.93[ASN][1000 genomes]
rs39312	0.95[ASN][1000 genomes]
rs39315	0.98[ASN][1000 genomes]
rs39317	0.99[ASN][1000 genomes]
rs39324	0.97[ASN][1000 genomes]
rs4148682	0.85[EUR][1000 genomes]
rs4730786	0.84[EUR][1000 genomes]
rs6960356	0.83[ASN][1000 genomes]
rs6966836	0.81[ASN][1000 genomes]
rs6979185	0.85[EUR][1000 genomes]
rs72603594	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72603595	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs739517	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797163	0.81[EUR][1000 genomes]
rs7808424	0.85[EUR][1000 genomes]
rs989727	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608256	chr7:116928371-117040117	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr7:116965000-116966400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:116965000-116966400	Enhancers	NH-A	brain
3	chr7:116965000-116966600	Weak transcription	Aorta	Aorta
4	chr7:116965600-116967400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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