Variant report

Variant	rs7205597
Chromosome Location	chr16:81453241-81453242
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81452827..81454808-chr16:81460836..81463803,3	K562	blood:
2	chr16:81450805..81453422-chr16:81457047..81459629,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11866931	1.00[EUR][1000 genomes]
rs13335052	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955319	1.00[EUR][1000 genomes]
rs34441922	1.00[EUR][1000 genomes]
rs34797363	1.00[EUR][1000 genomes]
rs4613060	1.00[EUR][1000 genomes]
rs7186064	0.89[EUR][1000 genomes]
rs7186540	0.89[EUR][1000 genomes]
rs7188374	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191231	0.89[EUR][1000 genomes]
rs7191804	0.89[EUR][1000 genomes]
rs7201488	0.89[EUR][1000 genomes]
rs72835160	1.00[EUR][1000 genomes]
rs72835164	1.00[EUR][1000 genomes]
rs72835165	1.00[EUR][1000 genomes]
rs72835171	1.00[EUR][1000 genomes]
rs72835178	0.89[EUR][1000 genomes]
rs8046466	0.89[EUR][1000 genomes]
rs9888977	1.00[EUR][1000 genomes]
rs9889135	1.00[EUR][1000 genomes]
rs9889175	1.00[EUR][1000 genomes]
rs9889186	1.00[EUR][1000 genomes]
rs9889196	1.00[EUR][1000 genomes]
rs9927898	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9935485	1.00[EUR][1000 genomes]
rs9940535	0.89[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 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	chr16:81452600-81453400	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr16:81452600-81454200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr16:81453000-81462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81453200-81453400	Enhancers	Sigmoid Colon	Sigmoid Colon

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