Variant report

Variant	rs12694208
Chromosome Location	chr2:211583889-211583890
allele	A/G
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:23)

rs_ID	r²[population]
rs1016396	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10167622	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10180880	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10204632	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10205035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12622994	0.96[ASN][1000 genomes]
rs16824974	0.96[ASN][1000 genomes]
rs16844851	0.96[ASN][1000 genomes]
rs17777270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861897	0.96[ASN][1000 genomes]
rs1861898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287414	0.96[ASN][1000 genomes]
rs2287415	0.96[ASN][1000 genomes]
rs2371036	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887930	0.81[ASN][1000 genomes]
rs4673547	0.89[ASN][1000 genomes]
rs4673549	0.89[ASN][1000 genomes]
rs57395348	0.91[ASN][1000 genomes]
rs58393285	0.89[ASN][1000 genomes]
rs6735614	0.96[ASN][1000 genomes]
rs67557307	0.81[ASN][1000 genomes]
rs73078181	0.81[ASN][1000 genomes]
rs7583500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv821631	chr2:211528918-211658981	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211562800-211587600	Weak transcription	Liver	Liver
2	chr2:211581600-211584600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:211581600-211584800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:211582000-211584800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:211582800-211584600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:211583400-211584600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:211583800-211584400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:211583800-211585000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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