Variant report

Variant	rs6581431
Chromosome Location	chr12:62169686-62169687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10747941	0.80[EUR][1000 genomes]
rs10747942	0.80[EUR][1000 genomes]
rs10784252	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10784263	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10877716	0.80[EUR][1000 genomes]
rs1506847	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1911247	0.80[EUR][1000 genomes]
rs2168452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2198779	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2360682	0.80[EUR][1000 genomes]
rs6581416	0.80[EUR][1000 genomes]
rs6581418	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6581419	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6581426	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6581430	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137928	0.80[EUR][1000 genomes]
rs7297180	0.80[EUR][1000 genomes]
rs7301397	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7303770	0.80[EUR][1000 genomes]
rs7306730	0.80[EUR][1000 genomes]
rs7398155	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7487386	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7488724	0.80[EUR][1000 genomes]
rs7954202	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7957259	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7974958	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][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	nsv1042044	chr12:61256015-62196885	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899151	chr12:62108648-62227606	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv826402	chr12:62116803-62178453	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv826403	chr12:62130037-62190482	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1040154	chr12:62145382-62176964	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv976633	chr12:62161502-62171322	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62157600-62172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:62163400-62173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:62163400-62175200	Weak transcription	Aorta	Aorta

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