Variant report

Variant	rs12622504
Chromosome Location	chr2:211630275-211630276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10167622	0.81[ASN][1000 genomes]
rs10208743	0.99[ASN][1000 genomes]
rs10932357	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10932358	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12464089	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12471767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473390	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12622994	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16824974	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16844788	0.86[CEU][hapmap]
rs16844800	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16844851	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1861897	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2160848	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2287414	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2287415	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2371073	0.99[ASN][1000 genomes]
rs2371074	0.99[ASN][1000 genomes]
rs2887930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4381725	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4560046	0.90[ASN][1000 genomes]
rs4584964	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4672588	0.95[EUR][1000 genomes]
rs4673547	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4673549	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57395348	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58393285	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6735614	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6736693	0.99[ASN][1000 genomes]
rs67466802	0.99[ASN][1000 genomes]
rs67557307	0.98[ASN][1000 genomes]
rs73078181	0.97[ASN][1000 genomes]
rs7425715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv522114	chr2:211619571-211765062	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211628600-211630600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:211628800-211630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:211628800-211633000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:211629000-211631000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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