Variant report

Variant	rs12320395
Chromosome Location	chr12:74659072-74659073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506691	1.00[EUR][1000 genomes]
rs11179924	1.00[AMR][1000 genomes]
rs11179938	1.00[AMR][1000 genomes]
rs11179961	1.00[AMR][1000 genomes]
rs11179988	1.00[EUR][1000 genomes]
rs11179989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11503770	1.00[AMR][1000 genomes]
rs12297190	1.00[AMR][1000 genomes]
rs12299538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317803	1.00[EUR][1000 genomes]
rs12318521	1.00[EUR][1000 genomes]
rs1522126	1.00[EUR][1000 genomes]
rs17113226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1982597	1.00[EUR][1000 genomes]
rs59771966	1.00[EUR][1000 genomes]
rs59917367	1.00[EUR][1000 genomes]
rs7133693	1.00[EUR][1000 genomes]
rs7315551	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73335503	1.00[EUR][1000 genomes]
rs73350030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73352806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73352828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74105463	1.00[EUR][1000 genomes]
rs74106716	1.00[EUR][1000 genomes]
rs7971410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9652042	1.00[AMR][1000 genomes]
rs980785	1.00[EUR][1000 genomes]
rs9919749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv559395	chr12:74576059-74676381	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv559396	chr12:74586210-74679054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv520257	chr12:74590356-74680999	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1048747	chr12:74597411-74674733	Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1053421	chr12:74599663-74674733	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74636600-74678000	Weak transcription	K562	blood
2	chr12:74658600-74661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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