Variant report

Variant	rs57393537
Chromosome Location	chr11:64694023-64694024
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64689194..64695395-chr11:64699461..64704301,10	K562	blood:
2	chr11:64693891..64698050-chr11:64753803..64757942,3	K562	blood:
3	chr11:64690400..64694324-chr11:64737120..64740822,5	K562	blood:
4	chr11:64691872..64694652-chr11:64781595..64784560,2	K562	blood:
5	chr11:64684182..64687060-chr11:64693697..64696129,2	K562	blood:
6	chr11:64611696..64613952-chr11:64692565..64694865,2	K562	blood:
7	chr11:64543505..64547238-chr11:64690556..64694712,4	K562	blood:
8	chr11:64692310..64694370-chr11:64695188..64697596,2	MCF-7	breast:
9	chr11:64692132..64694352-chr11:64806387..64808974,2	K562	blood:
10	chr11:64683337..64686600-chr11:64690985..64694112,6	MCF-7	breast:
11	chr11:64691374..64695669-chr11:64701131..64705582,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273003	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000171219	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12286941	0.83[EUR][1000 genomes]
rs17146506	0.84[EUR][1000 genomes]
rs35079323	0.83[EUR][1000 genomes]
rs35115827	0.81[EUR][1000 genomes]
rs4320955	0.84[EUR][1000 genomes]
rs57365630	0.83[EUR][1000 genomes]
rs60401184	0.84[EUR][1000 genomes]
rs60711419	0.81[EUR][1000 genomes]
rs60798873	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60935617	0.84[EUR][1000 genomes]
rs61024397	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61741079	0.83[EUR][1000 genomes]
rs61742063	0.83[EUR][1000 genomes]
rs628595	0.94[EUR][1000 genomes]
rs643949	0.94[EUR][1000 genomes]
rs647489	1.00[EUR][1000 genomes]
rs664997	0.95[EUR][1000 genomes]
rs7113751	0.83[EUR][1000 genomes]
rs7482817	0.84[EUR][1000 genomes]
rs7942472	0.83[EUR][1000 genomes]
rs885999	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64692800-64694800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:64692800-64697600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:64692800-64702200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:64693000-64694200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:64693000-64694200	Weak transcription	Primary T cells from cord blood	blood
6	chr11:64693000-64694200	Enhancers	GM12878-XiMat	blood
7	chr11:64693000-64694400	Enhancers	Fetal Brain Male	brain
8	chr11:64693000-64694400	Enhancers	Thymus	Thymus
9	chr11:64693000-64694800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:64693000-64695200	Weak transcription	HSMMtube	muscle
11	chr11:64693000-64697800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:64693000-64699200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:64693000-64700200	Weak transcription	A549	lung
14	chr11:64693000-64700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:64693000-64700600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:64693000-64702000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:64693000-64702600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:64693000-64703000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:64693000-64703000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:64693000-64703000	Weak transcription	Fetal Kidney	kidney
21	chr11:64693000-64703000	Weak transcription	K562	blood
22	chr11:64693000-64703600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:64693200-64694200	Weak transcription	Aorta	Aorta
24	chr11:64693200-64694200	Enhancers	Placenta	Placenta
25	chr11:64693200-64694200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:64693200-64694400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:64693200-64694400	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr11:64693200-64695000	Weak transcription	NH-A	brain
29	chr11:64693200-64695600	Weak transcription	Fetal Lung	lung
30	chr11:64693200-64695600	Weak transcription	Dnd41	blood
31	chr11:64693200-64695800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:64693200-64696600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:64693200-64696600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:64693200-64696600	Weak transcription	HMEC	breast
35	chr11:64693200-64697400	Weak transcription	HUVEC	blood vessel
36	chr11:64693200-64697800	Weak transcription	Fetal Thymus	thymus
37	chr11:64693200-64698200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:64693200-64701400	Weak transcription	Fetal Heart	heart
39	chr11:64693200-64702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:64693200-64702800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:64693400-64694200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:64693400-64694200	Enhancers	Brain Germinal Matrix	brain
43	chr11:64693400-64694400	Genic enhancers	Right Ventricle	heart
44	chr11:64693400-64694400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:64693400-64696400	Weak transcription	Osteobl	bone
46	chr11:64693400-64697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:64693400-64697600	Weak transcription	Ovary	ovary
48	chr11:64693600-64694200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:64693600-64694200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:64693600-64694200	Enhancers	Adipose Nuclei	Adipose

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