Variant report

Variant	rs7299621
Chromosome Location	chr12:62088642-62088643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11174099	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174121	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174135	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174151	1.00[EUR][1000 genomes]
rs11174156	1.00[EUR][1000 genomes]
rs11174167	1.00[EUR][1000 genomes]
rs11174170	1.00[EUR][1000 genomes]
rs11174171	1.00[EUR][1000 genomes]
rs11174178	1.00[EUR][1000 genomes]
rs11174179	1.00[EUR][1000 genomes]
rs11174206	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs12296389	0.82[YRI][hapmap]
rs12301609	1.00[EUR][1000 genomes]
rs12301651	1.00[EUR][1000 genomes]
rs12302070	1.00[EUR][1000 genomes]
rs12302650	1.00[EUR][1000 genomes]
rs12305579	1.00[EUR][1000 genomes]
rs12305869	1.00[EUR][1000 genomes]
rs12306721	1.00[EUR][1000 genomes]
rs12307176	1.00[EUR][1000 genomes]
rs12307906	1.00[EUR][1000 genomes]
rs12308834	1.00[EUR][1000 genomes]
rs12310261	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs12310815	1.00[EUR][1000 genomes]
rs12310971	1.00[EUR][1000 genomes]
rs12311143	1.00[EUR][1000 genomes]
rs12312418	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs12313937	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12314551	1.00[EUR][1000 genomes]
rs12315987	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12316239	1.00[EUR][1000 genomes]
rs12318519	0.83[YRI][hapmap]
rs12318619	0.83[YRI][hapmap]
rs12318980	0.83[YRI][hapmap]
rs12319647	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12319917	1.00[EUR][1000 genomes]
rs12320238	1.00[EUR][1000 genomes]
rs12320387	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12320743	1.00[EUR][1000 genomes]
rs12322039	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1506861	1.00[EUR][1000 genomes]
rs2359976	1.00[EUR][1000 genomes]
rs7137620	1.00[EUR][1000 genomes]
rs7294889	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7297714	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7301639	1.00[EUR][1000 genomes]
rs7314886	1.00[EUR][1000 genomes]
rs7979986	0.91[AFR][1000 genomes]
rs7980919	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9651985	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2829973	chr12:62078770-62115165	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv520898	chr12:62078770-62115165	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62087400-62090400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:62087600-62089000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:62088000-62089400	ZNF genes & repeats	Liver	Liver

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