Variant report

Variant	rs653955
Chromosome Location	chr11:65676485-65676486
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10791831	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791832	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10896065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227338	0.96[ASN][1000 genomes]
rs11542177	1.00[ASN][1000 genomes]
rs11825885	1.00[CEU][hapmap]
rs12099125	1.00[ASN][1000 genomes]
rs12099359	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12288911	1.00[CEU][hapmap]
rs12574568	1.00[JPT][hapmap]
rs12575514	0.81[ASN][1000 genomes]
rs12575735	1.00[JPT][hapmap]
rs12576224	0.94[ASN][1000 genomes]
rs12576319	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12577625	0.81[ASN][1000 genomes]
rs2241304	1.00[JPT][hapmap]
rs2276015	1.00[JPT][hapmap]
rs28372938	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3825068	1.00[JPT][hapmap]
rs4930169	0.89[JPT][hapmap]
rs58192075	1.00[ASN][1000 genomes]
rs58905199	0.81[ASN][1000 genomes]
rs61515492	0.86[ASN][1000 genomes]
rs67232706	0.83[ASN][1000 genomes]
rs67530871	0.83[ASN][1000 genomes]
rs72928828	0.81[ASN][1000 genomes]
rs72928830	0.81[ASN][1000 genomes]
rs73496412	1.00[ASN][1000 genomes]
rs73496423	0.97[ASN][1000 genomes]
rs73496424	1.00[ASN][1000 genomes]
rs73496435	1.00[ASN][1000 genomes]
rs7927841	0.89[ASN][1000 genomes]
rs7940700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7941052	0.94[ASN][1000 genomes]
rs7947504	1.00[EUR][1000 genomes]
rs9326357	0.84[ASN][1000 genomes]
rs9326360	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9326361	1.00[CEU][hapmap]
rs9326362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9795434	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9919533	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	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65668000-65682600	Weak transcription	Aorta	Aorta
2	chr11:65671200-65678800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:65671200-65679000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:65671200-65679400	Weak transcription	HSMMtube	muscle
5	chr11:65671400-65676600	Weak transcription	Fetal Thymus	thymus
6	chr11:65671600-65676600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:65671600-65677600	Weak transcription	NHLF	lung
8	chr11:65671600-65678600	Weak transcription	NH-A	brain
9	chr11:65671800-65676600	Weak transcription	Hela-S3	cervix
10	chr11:65671800-65677600	Weak transcription	A549	lung
11	chr11:65672000-65677000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:65672000-65678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:65672600-65678800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:65672800-65677800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:65673400-65678000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:65674600-65678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65674600-65678000	Weak transcription	HSMM	muscle
18	chr11:65674800-65676600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:65674800-65677600	Weak transcription	Osteobl	bone
20	chr11:65674800-65677800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:65674800-65678000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:65674800-65678000	Weak transcription	HMEC	breast
23	chr11:65674800-65678000	Weak transcription	NHEK	skin
24	chr11:65674800-65678600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:65675400-65677800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:65675800-65676600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65676400-65676600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
28	chr11:65676400-65676600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:65676400-65676600	Enhancers	HepG2	liver
30	chr11:65676400-65676600	Enhancers	K562	blood
31	chr11:65676400-65676800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:65676400-65677000	Active TSS	Stomach Mucosa	stomach
33	chr11:65676400-65683600	Enhancers	NHDF-Ad	bronchial
34	chr11:65676400-65683800	Weak transcription	Primary T cells from cord blood	blood

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