Variant report

Variant	rs11125982
Chromosome Location	chr2:21611403-21611404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21609330..21611613-chr2:21622342..21624204,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10168561	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10185804	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10187591	0.85[EUR][1000 genomes]
rs10188686	0.84[EUR][1000 genomes]
rs10206256	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030323	0.93[EUR][1000 genomes]
rs1030736	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1030737	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11125980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125983	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684506	0.90[EUR][1000 genomes]
rs11693815	0.86[EUR][1000 genomes]
rs11695742	0.93[EUR][1000 genomes]
rs11897265	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12467135	0.92[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs12713505	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12713531	0.93[EUR][1000 genomes]
rs12713547	0.93[EUR][1000 genomes]
rs12713550	0.93[EUR][1000 genomes]
rs12713613	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13001845	0.91[EUR][1000 genomes]
rs13027723	0.85[EUR][1000 genomes]
rs13383973	0.85[EUR][1000 genomes]
rs13420091	0.84[EUR][1000 genomes]
rs13422474	0.94[EUR][1000 genomes]
rs13424669	0.84[EUR][1000 genomes]
rs13426350	0.85[EUR][1000 genomes]
rs13430808	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17042250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1865331	0.99[EUR][1000 genomes]
rs1865332	1.00[CEU][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes]
rs2117302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164053	0.94[EUR][1000 genomes]
rs2164054	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2196164	0.93[EUR][1000 genomes]
rs2216953	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2338024	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs34073712	0.90[EUR][1000 genomes]
rs34120876	0.92[EUR][1000 genomes]
rs34468506	0.92[EUR][1000 genomes]
rs35011116	0.94[EUR][1000 genomes]
rs35325285	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35585102	0.94[EUR][1000 genomes]
rs4141645	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4557007	0.93[EUR][1000 genomes]
rs6546010	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546013	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546014	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546015	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546089	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6705624	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6706857	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717947	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6746898	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs736442	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7562000	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7567398	0.82[EUR][1000 genomes]
rs7568314	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7581122	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7594499	0.94[EUR][1000 genomes]
rs7596106	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9973644	0.90[EUR][1000 genomes]
rs9973753	0.90[EUR][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	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv455863	chr2:21547003-21615340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv581170	chr2:21547003-21615340	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv2631	chr2:21606995-21652014	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv11873	chr2:21611318-21612150	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21582000-21634600	Weak transcription	Aorta	Aorta
2	chr2:21611200-21611800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:21611400-21611600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:21611400-21611600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:21611400-21611600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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