Variant report

Variant	rs12541184
Chromosome Location	chr8:20307118-20307119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10088104	1.00[ASN][1000 genomes]
rs10089034	1.00[ASN][1000 genomes]
rs10101529	1.00[ASN][1000 genomes]
rs10110728	1.00[ASN][1000 genomes]
rs12542181	1.00[ASN][1000 genomes]
rs12546283	1.00[ASN][1000 genomes]
rs12547463	1.00[ASN][1000 genomes]
rs12547660	1.00[ASN][1000 genomes]
rs12549869	1.00[ASN][1000 genomes]
rs13252753	0.94[EUR][1000 genomes]
rs13255351	0.94[EUR][1000 genomes]
rs13264282	0.89[EUR][1000 genomes]
rs13275284	0.86[EUR][1000 genomes]
rs17092436	0.94[EUR][1000 genomes]
rs17092633	0.86[EUR][1000 genomes]
rs1825001	0.94[EUR][1000 genomes]
rs1842393	1.00[ASN][1000 genomes]
rs28398795	1.00[ASN][1000 genomes]
rs28661722	1.00[ASN][1000 genomes]
rs28720941	1.00[ASN][1000 genomes]
rs34056197	0.92[EUR][1000 genomes]
rs34349815	0.94[EUR][1000 genomes]
rs35159889	0.84[EUR][1000 genomes]
rs35573035	0.86[EUR][1000 genomes]
rs35959392	0.94[EUR][1000 genomes]
rs36091859	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4289833	1.00[ASN][1000 genomes]
rs57464403	0.97[EUR][1000 genomes]
rs58127574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58880504	0.92[EUR][1000 genomes]
rs60073527	1.00[ASN][1000 genomes]
rs67850346	0.89[EUR][1000 genomes]
rs7000017	1.00[ASN][1000 genomes]
rs7003050	1.00[ASN][1000 genomes]
rs7004136	1.00[ASN][1000 genomes]
rs7004907	1.00[ASN][1000 genomes]
rs7005333	1.00[ASN][1000 genomes]
rs7018201	1.00[ASN][1000 genomes]
rs73617825	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20295000-20311000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:20300400-20310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:20305600-20312000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:20305800-20311600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:20307000-20307600	Weak transcription	Primary hematopoietic stem cells	blood

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