Variant report

Variant	rs57754448
Chromosome Location	chr2:31917428-31917429
allele	-/C/CCC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31909066..31910912-chr2:31917337..31919899,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10204002	0.82[ASN][1000 genomes]
rs10490357	0.85[EUR][1000 genomes]
rs10490358	0.84[EUR][1000 genomes]
rs1090817	0.91[ASN][1000 genomes]
rs11124267	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11883601	0.90[EUR][1000 genomes]
rs11885062	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11888094	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11890763	0.82[EUR][1000 genomes]
rs11901415	0.82[EUR][1000 genomes]
rs12988908	0.82[EUR][1000 genomes]
rs12997171	0.84[EUR][1000 genomes]
rs12997994	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13001512	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13003695	0.80[EUR][1000 genomes]
rs13006356	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006358	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13013099	0.82[EUR][1000 genomes]
rs13014501	0.84[EUR][1000 genomes]
rs13022655	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13022696	0.84[EUR][1000 genomes]
rs13027103	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13395648	0.84[ASN][1000 genomes]
rs13432696	0.84[ASN][1000 genomes]
rs1383023	0.87[EUR][1000 genomes]
rs17011641	0.82[EUR][1000 genomes]
rs17011644	0.82[EUR][1000 genomes]
rs17011673	0.82[EUR][1000 genomes]
rs17766509	0.84[EUR][1000 genomes]
rs17817040	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17817607	0.84[EUR][1000 genomes]
rs17818002	0.84[EUR][1000 genomes]
rs2064814	0.82[EUR][1000 genomes]
rs34056419	0.82[EUR][1000 genomes]
rs34091236	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34124115	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34369001	0.82[EUR][1000 genomes]
rs34509832	0.90[EUR][1000 genomes]
rs34540872	0.85[EUR][1000 genomes]
rs34617455	0.82[EUR][1000 genomes]
rs34687527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34805211	0.85[EUR][1000 genomes]
rs34893975	0.90[EUR][1000 genomes]
rs34970173	0.85[EUR][1000 genomes]
rs34973007	0.82[EUR][1000 genomes]
rs35118236	0.91[ASN][1000 genomes]
rs35439422	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35502701	0.82[EUR][1000 genomes]
rs35514510	0.82[EUR][1000 genomes]
rs35574090	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35631143	0.84[EUR][1000 genomes]
rs35820518	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3754837	0.86[EUR][1000 genomes]
rs3754838	0.90[ASN][1000 genomes]
rs3819844	0.84[ASN][1000 genomes]
rs479847	0.82[ASN][1000 genomes]
rs4952227	0.88[ASN][1000 genomes]
rs519704	0.87[ASN][1000 genomes]
rs6543644	0.80[EUR][1000 genomes]
rs66511526	0.82[EUR][1000 genomes]
rs66735346	0.82[EUR][1000 genomes]
rs66949767	0.82[EUR][1000 genomes]
rs67048620	0.82[EUR][1000 genomes]
rs6739654	0.81[EUR][1000 genomes]
rs6761760	0.84[EUR][1000 genomes]
rs67780569	0.82[EUR][1000 genomes]
rs68039196	0.81[EUR][1000 genomes]
rs71446027	0.85[EUR][1000 genomes]
rs72857279	0.82[EUR][1000 genomes]
rs72859088	0.82[EUR][1000 genomes]
rs72860906	0.84[EUR][1000 genomes]
rs7562326	0.82[ASN][1000 genomes]
rs7563475	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7567093	0.91[ASN][1000 genomes]
rs7577579	0.82[EUR][1000 genomes]
rs7589579	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7591270	0.82[EUR][1000 genomes]
rs7594951	0.82[ASN][1000 genomes]
rs806587	0.94[ASN][1000 genomes]
rs806590	0.91[ASN][1000 genomes]
rs806591	0.83[ASN][1000 genomes]
rs9789452	0.88[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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1002988	chr2:31767131-31996924	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3376782	chr2:31861607-32046180	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1003376	chr2:31889934-32022595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv961025	chr2:31910984-31922498	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31908400-31924200	ZNF genes & repeats	Liver	Liver
2	chr2:31914000-31919200	Weak transcription	Fetal Heart	heart
3	chr2:31917200-31920600	ZNF genes & repeats	Adipose Nuclei	Adipose

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