Variant report

Variant	rs2060491
Chromosome Location	chr2:178861231-178861232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178860190..178862819-chr2:178863272..178865275,2	K562	blood:

Variant related genes	Relation type
ENSG00000213962	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10198111	0.82[EUR][1000 genomes]
rs1020010	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10211367	0.88[ASN][1000 genomes]
rs10930820	0.94[ASN][1000 genomes]
rs10930822	0.83[EUR][1000 genomes]
rs11674668	0.83[EUR][1000 genomes]
rs12473461	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12478277	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12478848	0.81[ASN][1000 genomes]
rs12618606	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12621562	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13030747	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1347441	0.83[EUR][1000 genomes]
rs1527286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527293	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1534289	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1546813	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1554776	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17687590	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17687668	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1821629	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1836672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852496	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1852497	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1852499	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1982131	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1991994	0.94[ASN][1000 genomes]
rs2060490	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2117738	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2117740	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4335982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4567975	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4893994	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4893995	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62183413	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62185279	0.82[EUR][1000 genomes]
rs6750869	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6758442	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs744397	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs744398	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7570423	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs764780	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs934568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9679090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv583738	chr2:178856430-178861725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv961915	chr2:178860061-178863452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178854600-178861400	Weak transcription	A549	lung
2	chr2:178854800-178861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:178860600-178863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:178861200-178864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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