Variant report

Variant	rs28675726
Chromosome Location	chr14:21226165-21226166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21225835..21226856-chr14:21323577..21324461,4	K562	blood:
2	chr14:21165555..21167023-chr14:21225530..21226742,6	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131142	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10131504	0.88[AFR][1000 genomes]
rs10137167	0.90[AMR][1000 genomes]
rs12323484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28409454	0.90[AFR][1000 genomes]
rs28491467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28540937	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28604910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2873980	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58544488	0.85[EUR][1000 genomes]
rs58740940	0.89[AFR][1000 genomes]
rs58918942	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72661354	0.85[EUR][1000 genomes]
rs72661355	0.85[EUR][1000 genomes]
rs72666874	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72666887	0.90[AMR][1000 genomes]
rs72666893	0.90[AMR][1000 genomes]
rs72666898	0.81[AMR][1000 genomes]
rs74034391	0.90[AFR][1000 genomes]
rs74034396	0.90[AFR][1000 genomes]
rs74037922	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv901470	chr14:21203159-21244696	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr14:21221200-21229000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:21221400-21241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21223200-21236200	Weak transcription	Left Ventricle	heart
4	chr14:21226000-21226800	Enhancers	Brain Hippocampus Middle	brain

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