Variant report

Variant	rs12488651
Chromosome Location	chr3:84600973-84600974
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1473461	1.00[ASN][1000 genomes]
rs1580448	1.00[ASN][1000 genomes]
rs1586307	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17492563	0.99[ASN][1000 genomes]
rs1905846	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1905848	0.86[ASN][1000 genomes]
rs56985130	1.00[ASN][1000 genomes]
rs59551717	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59671531	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62254217	0.93[ASN][1000 genomes]
rs62254685	0.96[ASN][1000 genomes]
rs62254689	0.96[ASN][1000 genomes]
rs62254714	1.00[ASN][1000 genomes]
rs62254715	1.00[ASN][1000 genomes]
rs6781297	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782948	0.99[ASN][1000 genomes]
rs73127115	1.00[ASN][1000 genomes]
rs7644089	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7646863	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9309944	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs974534	0.89[ASN][1000 genomes]
rs974535	0.93[ASN][1000 genomes]
rs9825859	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9837600	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9839147	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007008	chr3:84069044-84653896	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv536612	chr3:84069044-84653896	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv460743	chr3:84094818-84644186	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv590814	chr3:84094818-84644186	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2760745	chr3:84208364-84783259	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv998578	chr3:84521514-84773582	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536615	chr3:84521514-84773582	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv460744	chr3:84526413-84630305	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv590850	chr3:84526413-84630305	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3327132	chr3:84597762-84601460	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84600200-84601600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:84600400-84601400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:84600600-84601000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:84600600-84601000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:84600600-84601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:84600600-84601600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:84600800-84601200	Enhancers	HUES6 Cell Line	embryonic stem cell

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