Variant report

Variant	rs1825001
Chromosome Location	chr8:20314181-20314182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12541184	0.94[EUR][1000 genomes]
rs13252753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13255351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13264282	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13275284	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17092436	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17092633	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34056197	0.92[EUR][1000 genomes]
rs34349815	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34914046	0.83[EUR][1000 genomes]
rs35159889	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35573035	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35959392	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36091859	0.89[EUR][1000 genomes]
rs57464403	0.97[EUR][1000 genomes]
rs58127574	0.94[EUR][1000 genomes]
rs58880504	0.97[EUR][1000 genomes]
rs67850346	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73617825	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20312000-20314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:20312800-20316000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:20313600-20314600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:20313600-20314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:20313600-20314800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:20313600-20314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:20313600-20314800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:20313600-20315200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:20313600-20316200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:20313600-20317800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:20313800-20314200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:20313800-20314600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:20313800-20314800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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