Variant report

Variant	rs1852502
Chromosome Location	chr2:178861725-178861726
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: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10176475	0.82[CHD][hapmap]
rs10198111	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10930822	0.82[ASN][1000 genomes]
rs11674668	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11677176	0.86[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.95[LWK][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687117	0.88[CEU][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11695452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473461	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs13030747	0.86[EUR][1000 genomes]
rs13386827	0.82[CEU][hapmap];0.89[TSI][hapmap]
rs1347441	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1369517	0.82[CHD][hapmap]
rs1438053	0.88[CEU][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs1546813	0.94[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs17329062	0.82[CEU][hapmap]
rs1852501	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852503	0.88[CEU][hapmap];0.93[JPT][hapmap]
rs1866213	0.81[EUR][1000 genomes]
rs1880916	0.87[CEU][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2043547	0.93[JPT][hapmap]
rs2573079	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs2573087	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695101	0.91[JPT][hapmap]
rs2695107	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2695109	0.97[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap]
rs2695115	0.88[CEU][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap]
rs2695728	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2695730	0.87[CEU][hapmap];0.93[JPT][hapmap]
rs2695731	0.81[JPT][hapmap]
rs2695737	0.82[CEU][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap]
rs2695739	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2695757	0.88[CEU][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap]
rs3910519	0.81[CEU][hapmap]
rs4324348	0.88[CEU][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs4893995	0.88[CEU][hapmap]
rs55962659	0.85[EUR][1000 genomes]
rs62183411	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183412	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183443	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183445	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62185279	0.83[ASN][1000 genomes]
rs6433709	0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap]
rs6433710	0.82[YRI][hapmap]
rs6705472	0.88[CEU][hapmap];0.93[JPT][hapmap]
rs6709256	1.00[JPT][hapmap]
rs6710329	0.82[CHD][hapmap]
rs6711886	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724505	0.82[CEU][hapmap]
rs6738831	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6758473	0.87[CEU][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs6758543	0.83[CEU][hapmap]
rs6759109	0.87[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs744397	0.94[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs7570423	0.82[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs7588973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598623	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7608073	1.00[JPT][hapmap]
rs764780	0.86[EUR][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:178860600-178863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:178861200-178864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:178861400-178863800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:178861600-178862400	Weak transcription	A549	lung
6	chr2:178861600-178862600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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