Variant report

Variant	rs11688976
Chromosome Location	chr2:213469506-213469507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10174150	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11676391	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685022	0.86[EUR][1000 genomes]
rs11692809	0.92[ASN][1000 genomes]
rs13395632	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1384297	0.81[ASN][1000 genomes]
rs17330768	0.88[EUR][1000 genomes]
rs1878566	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2054613	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054615	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2068404	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2128324	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2371710	0.81[ASN][1000 genomes]
rs34741122	0.87[EUR][1000 genomes]
rs35927619	0.83[ASN][1000 genomes]
rs4337429	0.81[ASN][1000 genomes]
rs4673669	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4673673	0.81[ASN][1000 genomes]
rs62186337	0.90[EUR][1000 genomes]
rs66535530	0.87[EUR][1000 genomes]
rs6706987	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6708862	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6711917	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6712252	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6731808	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743091	0.80[ASN][1000 genomes]
rs6749009	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6749157	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67535717	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6761880	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72933003	0.81[ASN][1000 genomes]
rs72933004	0.81[ASN][1000 genomes]
rs72933008	0.81[ASN][1000 genomes]
rs72951177	0.81[ASN][1000 genomes]
rs72951178	0.81[ASN][1000 genomes]
rs7572637	0.80[ASN][1000 genomes]
rs7578094	0.83[ASN][1000 genomes]
rs7580653	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7583787	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7585465	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7587236	0.80[ASN][1000 genomes]
rs7590700	0.80[ASN][1000 genomes]
rs7598633	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7601545	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7606156	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9288455	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs931215	0.87[EUR][1000 genomes]
rs931218	0.88[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	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3459104	chr2:213465833-213470603	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3459102	chr2:213465857-213470603	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3459103	chr2:213465897-213470559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3459105	chr2:213465897-213470559	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv524959	chr2:213468813-213472634	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3692759	chr2:213468813-213473115	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213462600-213483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213469200-213469600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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