Variant report

Variant	rs72684594
Chromosome Location	chr4:120906216-120906217
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120898790..120900807-chr4:120905834..120908765,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56042330	1.00[AMR][1000 genomes]
rs72682845	1.00[AMR][1000 genomes]
rs72682897	1.00[AMR][1000 genomes]
rs72682901	1.00[AMR][1000 genomes]
rs72684509	1.00[AMR][1000 genomes]
rs72684514	1.00[AMR][1000 genomes]
rs72684533	0.80[EUR][1000 genomes]
rs72684534	0.80[EUR][1000 genomes]
rs72684567	1.00[AMR][1000 genomes]
rs72684587	1.00[AMR][1000 genomes]
rs72684588	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684589	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684590	0.86[EUR][1000 genomes]
rs72684591	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684592	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684593	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684595	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684596	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684597	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684599	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72684600	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv879849	chr4:120823634-120922444	Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv879850	chr4:120898509-120969089	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120905600-120906400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr4:120905600-120906400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:120905800-120906400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:120905800-120906400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:120905800-120906400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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