Variant report

Variant	rs1939066
Chromosome Location	chr11:101688794-101688795
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	chr11:101686463..101689388-chr11:101690529..101692168,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10458947	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10459003	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10466637	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10750619	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10791521	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10791522	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10791525	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10791526	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10791536	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10791537	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10791538	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10791541	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10791542	0.81[ASN][1000 genomes]
rs10895191	0.80[AMR][1000 genomes]
rs10895196	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10895197	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10895198	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10895199	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895200	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10895214	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10895215	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10895216	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11225006	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11225009	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11225014	0.92[ASN][1000 genomes]
rs11599998	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12223480	0.80[AMR][1000 genomes]
rs1939025	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1939039	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1939057	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939059	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1939071	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1939073	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1939437	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2099834	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2155057	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2155058	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2155061	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2155063	0.88[AMR][1000 genomes]
rs2186610	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2197105	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3920965	0.92[ASN][1000 genomes]
rs4313552	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4754022	0.90[ASN][1000 genomes]
rs6590918	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7104516	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7126538	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7131271	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs732086	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs732257	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7924364	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7931237	0.81[AMR][1000 genomes]
rs7936478	0.81[AMR][1000 genomes]
rs7949648	0.81[AMR][1000 genomes]
rs9988826	0.93[AMR][1000 genomes];0.97[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1939066	DDI1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101687000-101689400	Enhancers	NHDF-Ad	bronchial
2	chr11:101688000-101689000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:101688400-101689000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:101688600-101692000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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