Variant report

Variant	rs12546283
Chromosome Location	chr8:20312791-20312792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10088104	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10089034	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10101529	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110728	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541184	1.00[ASN][1000 genomes]
rs12542181	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547463	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12547660	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12549869	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092668	1.00[EUR][1000 genomes]
rs1842393	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28375852	1.00[EUR][1000 genomes]
rs28398795	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28720941	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36091859	1.00[ASN][1000 genomes]
rs4289833	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58127574	1.00[ASN][1000 genomes]
rs60073527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986012	1.00[EUR][1000 genomes]
rs7000017	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003050	1.00[ASN][1000 genomes]
rs7004136	1.00[ASN][1000 genomes]
rs7004907	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005333	1.00[ASN][1000 genomes]
rs7007779	1.00[EUR][1000 genomes]
rs7009375	1.00[EUR][1000 genomes]
rs7018201	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73611670	1.00[EUR][1000 genomes]
rs73617825	1.00[ASN][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20310800-20313800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:20311200-20313600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:20311200-20313600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:20311200-20313800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:20311600-20312800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:20311800-20313200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:20312000-20314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:20312400-20312800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:20312400-20312800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:20312600-20313600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr8:20312600-20313600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:20312600-20313600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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