Variant report

Variant	rs2383213
Chromosome Location	chr9:22241415-22241416
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:21989791..21997438-chr9:22235038..22242897,11	MCF-7	breast:
2	chr9:22208635..22217579-chr9:22235952..22243529,17	MCF-7	breast:
3	chr9:22007456..22010233-chr9:22240335..22243644,3	MCF-7	breast:
4	chr9:22036137..22041888-chr9:22239404..22245288,7	MCF-7	breast:
5	chr9:21811209..21815369-chr9:22236301..22242853,10	MCF-7	breast:
6	chr9:22134724..22142146-chr9:22236106..22241744,12	MCF-7	breast:
7	chr9:21992499..21995097-chr9:22240805..22243127,2	MCF-7	breast:
8	chr9:22104503..22107201-chr9:22240105..22242978,2	MCF-7	breast:
9	chr9:22006917..22010967-chr9:22237513..22242340,6	MCF-7	breast:
10	chr9:22001061..22004369-chr9:22238079..22242030,5	MCF-7	breast:
11	chr9:22134738..22136588-chr9:22241376..22243783,2	MCF-7	breast:
12	chr9:22100911..22107878-chr9:22236967..22244514,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147889	Chromatin interaction
ENSG00000229298	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000147883	Chromatin interaction
ENSG00000236921	Chromatin interaction
ENSG00000266446	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11788928	1.00[CEU][hapmap]
rs11790978	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11792897	1.00[CEU][hapmap]
rs11792932	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12003808	0.82[EUR][1000 genomes]
rs1590630	1.00[JPT][hapmap]
rs16905769	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2025797	0.82[EUR][1000 genomes]
rs2383209	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4246844	1.00[JPT][hapmap]
rs4461984	0.82[EUR][1000 genomes]
rs4644346	0.86[EUR][1000 genomes]
rs62555450	0.82[EUR][1000 genomes]
rs62555451	0.82[EUR][1000 genomes]
rs62555452	0.86[EUR][1000 genomes]
rs62555453	0.81[EUR][1000 genomes]
rs62559460	0.86[EUR][1000 genomes]
rs62559467	0.86[EUR][1000 genomes]
rs62559468	0.82[EUR][1000 genomes]
rs62559469	0.86[EUR][1000 genomes]
rs62559470	0.86[EUR][1000 genomes]
rs62559471	0.86[EUR][1000 genomes]
rs62559493	0.87[EUR][1000 genomes]
rs62559494	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62559495	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62559496	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62559497	0.83[AMR][1000 genomes]
rs62559500	0.83[AMR][1000 genomes]
rs62559504	0.85[AMR][1000 genomes]
rs62559505	0.85[AMR][1000 genomes]
rs73444955	0.86[EUR][1000 genomes]
rs7853527	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853566	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7859353	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7859407	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv892749	chr9:22125913-22244280	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1021264	chr9:22159622-22293804	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1033789	chr9:22183150-22266091	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1029289	chr9:22193167-23023688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1016067	chr9:22210874-22432654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1015364	chr9:22211364-22416886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv540086	chr9:22211364-22416886	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22237200-22241800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:22238600-22241800	Enhancers	A549	lung
3	chr9:22238600-22242400	Enhancers	Primary B cells from peripheral blood	blood
4	chr9:22238800-22242400	Enhancers	Primary B cells from cord blood	blood
5	chr9:22239000-22242000	Enhancers	Hela-S3	cervix
6	chr9:22239000-22244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:22239600-22242000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:22240000-22242000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:22240200-22242000	Enhancers	Adipose Nuclei	Adipose
10	chr9:22240200-22244000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:22240200-22244600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:22240400-22242400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr9:22240600-22241800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:22240600-22242400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:22241000-22242200	Flanking Active TSS	GM12878-XiMat	blood
16	chr9:22241000-22244800	Weak transcription	HUVEC	blood vessel
17	chr9:22241000-22245200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:22241200-22242000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:22241200-22242000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:22241400-22242000	Enhancers	NH-A	brain
21	chr9:22241400-22243600	Weak transcription	NHEK	skin
22	chr9:22241400-22243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:22241400-22243800	Weak transcription	HMEC	breast
24	chr9:22241400-22244600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:22241400-22251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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