Variant report

Variant	rs11825426
Chromosome Location	chr11:8189246-8189247
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:8189211-8189940	A549	lung:	n/a	n/a
2	REST	chr11:8189096-8190306	HL-60	blood:	n/a	n/a
3	MXI1	chr11:8189243-8191706	SK-N-SH	brain:	n/a	n/a
4	REST	chr11:8189216-8189940	PFSK-1	brain:	n/a	n/a
5	REST	chr11:8189138-8189951	PANC-1	pancreas:	n/a	n/a
6	REST	chr11:8189192-8189992	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr11:8189138-8190304	PANC-1	pancreas:	n/a	n/a
8	REST	chr11:8189216-8189986	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000246820	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10769880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11820921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825474	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12098876	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1528133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16935797	0.86[CHB][hapmap]
rs16936374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936453	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884897	0.88[ASN][1000 genomes]
rs3812761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4758043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4758291	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4758292	0.88[ASN][1000 genomes]
rs4758293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4758296	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758297	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758299	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734038	0.94[ASN][1000 genomes]
rs55800727	0.91[ASN][1000 genomes]
rs55990541	0.94[ASN][1000 genomes]
rs56069405	0.91[ASN][1000 genomes]
rs56151106	0.91[ASN][1000 genomes]
rs56296484	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56359962	0.94[ASN][1000 genomes]
rs56391723	0.91[ASN][1000 genomes]
rs58468974	0.94[ASN][1000 genomes]
rs59196234	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59304961	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59649611	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59779009	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60126747	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66638701	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66675297	0.94[ASN][1000 genomes]
rs66849637	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66904272	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67163850	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311429	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67381251	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67538440	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67616239	0.94[ASN][1000 genomes]
rs67646462	0.94[ASN][1000 genomes]
rs67651384	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67738066	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67800627	0.91[ASN][1000 genomes]
rs67807225	0.94[ASN][1000 genomes]
rs67923068	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68084728	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68154852	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs72849307	0.94[ASN][1000 genomes]
rs7480804	0.86[CHB][hapmap]
rs7939737	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8156000-8189800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:8162000-8189400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:8175600-8189400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:8179000-8189400	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:8179200-8189600	Weak transcription	Right Ventricle	heart
6	chr11:8184000-8190000	Weak transcription	Aorta	Aorta
7	chr11:8186400-8189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:8187400-8189400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:8187600-8189600	Weak transcription	Ovary	ovary
10	chr11:8188400-8189800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:8188600-8189800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:8188800-8189400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:8188800-8189400	Enhancers	Stomach Smooth Muscle	stomach
14	chr11:8188800-8189600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:8189000-8189400	Enhancers	Brain Anterior Caudate	brain
16	chr11:8189000-8189400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:8189000-8189600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:8189200-8189400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:8189200-8189400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:8189200-8189400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:8189200-8189400	Enhancers	Brain Angular Gyrus	brain
22	chr11:8189200-8189400	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:8189200-8189400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr11:8189200-8189600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:8189200-8189800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr11:8189200-8190000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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