Variant report

Variant	rs2186611
Chromosome Location	chr11:101675132-101675133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10501990	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10736621	1.00[JPT][hapmap]
rs10750622	0.89[ASN][1000 genomes]
rs10791523	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791524	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791535	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791539	0.89[ASN][1000 genomes]
rs10895192	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10895202	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1372415	0.89[ASN][1000 genomes]
rs1441932	0.89[ASN][1000 genomes]
rs1815903	0.89[ASN][1000 genomes]
rs1815904	0.89[ASN][1000 genomes]
rs1815905	0.89[ASN][1000 genomes]
rs1939028	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939031	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1939033	0.82[AMR][1000 genomes]
rs1939036	0.87[AMR][1000 genomes]
rs1939041	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1939044	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1939045	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1939056	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1939063	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1939069	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1939070	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1939461	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2000535	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2155064	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2155066	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4084123	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4237604	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4237605	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4445600	0.89[ASN][1000 genomes]
rs4576789	0.89[ASN][1000 genomes]
rs4620692	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754020	0.83[AMR][1000 genomes]
rs4754021	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754027	0.89[ASN][1000 genomes]
rs4754031	0.89[ASN][1000 genomes]
rs4754799	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4754800	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754802	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754805	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4754810	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4754812	0.89[ASN][1000 genomes]
rs4754814	0.89[ASN][1000 genomes]
rs6590920	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6590923	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7101850	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7117680	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7128050	0.89[AMR][1000 genomes]
rs7925336	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7941166	0.89[ASN][1000 genomes]
rs7950837	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs894256	0.89[ASN][1000 genomes]
rs894257	0.89[ASN][1000 genomes]
rs947993	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs947994	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898332	chr11:101562004-101732566	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv832249	chr11:101571819-101749073	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv430425	chr11:101626575-101741691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1044622	chr11:101662199-101689311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1038458	chr11:101662199-101712638	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1048625	chr11:101667158-101720068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2186611	BIRC2	cis	parietal	SCAN
rs2186611	KIAA1377	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101674200-101675200	Enhancers	NHDF-Ad	bronchial
2	chr11:101674600-101675800	Enhancers	Fetal Lung	lung
3	chr11:101674800-101675200	Enhancers	Ovary	ovary
4	chr11:101674800-101675400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:101674800-101675400	Enhancers	NHLF	lung

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