Variant report

Variant	rs28375852
Chromosome Location	chr8:20370582-20370583
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10101529	1.00[EUR][1000 genomes]
rs10110728	1.00[EUR][1000 genomes]
rs12542181	1.00[EUR][1000 genomes]
rs12546283	1.00[EUR][1000 genomes]
rs12549869	1.00[EUR][1000 genomes]
rs17092668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28398795	1.00[EUR][1000 genomes]
rs28661722	1.00[EUR][1000 genomes]
rs28720941	1.00[EUR][1000 genomes]
rs60073527	1.00[EUR][1000 genomes]
rs6986012	1.00[EUR][1000 genomes]
rs7000017	1.00[EUR][1000 genomes]
rs7004907	1.00[EUR][1000 genomes]
rs7007779	1.00[EUR][1000 genomes]
rs7009375	1.00[EUR][1000 genomes]
rs73611670	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv916454	chr8:20342959-20531705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:20367400-20377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:20367600-20372200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:20367800-20371400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:20368200-20371600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:20368400-20371600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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