Variant report

Variant	rs12815952
Chromosome Location	chr12:42235187-42235188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10880173	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10880175	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181200	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181202	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181203	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11181220	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12372521	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472402	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472403	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1497149	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1948597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2109528	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2159588	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173159	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3858732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295842	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs734384	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs734385	0.87[ASN][1000 genomes]
rs961858	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs961859	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[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	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1047870	chr12:42158954-42254373	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
4	nsv1041975	chr12:42159517-42254373	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
5	nsv1037646	chr12:42160758-42254373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
6	nsv1055012	chr12:42221483-42253502	Enhancers ZNF genes & repeats Weak transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv1051707	chr12:42221483-42254373	Weak transcription Enhancers ZNF genes & repeats	lncRNA	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	chr12:42218600-42257000	Weak transcription	Aorta	Aorta
2	chr12:42231400-42238000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:42235000-42235400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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