Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102358831..102361253-chr11:102363171..102365874,2	MCF-7	breast:
2	chr11:102323470..102325107-chr11:102364367..102365927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

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

rs_ID	r²[population]
rs11821503	1.00[EUR][1000 genomes]
rs11824853	1.00[AMR][1000 genomes]
rs11826339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55971995	1.00[EUR][1000 genomes]
rs57366730	1.00[EUR][1000 genomes]
rs57688197	1.00[EUR][1000 genomes]
rs57879472	1.00[EUR][1000 genomes]
rs58716619	1.00[EUR][1000 genomes]
rs58874026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58874629	1.00[EUR][1000 genomes]
rs58910901	1.00[EUR][1000 genomes]
rs59473983	1.00[EUR][1000 genomes]
rs59728890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60961163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61525588	1.00[EUR][1000 genomes]
rs7112218	1.00[EUR][1000 genomes]
rs73591566	1.00[EUR][1000 genomes]
rs73591567	1.00[EUR][1000 genomes]
rs73591568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73593530	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102358400-102365600	Weak transcription	Primary T cells from cord blood	blood
2	chr11:102363600-102366400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:102364000-102365200	Weak transcription	GM12878-XiMat	blood
4	chr11:102364200-102364800	Flanking Active TSS	A549	lung
5	chr11:102364200-102365200	Enhancers	Fetal Intestine Large	intestine
6	chr11:102364200-102365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:102364200-102366800	Enhancers	Liver	Liver
8	chr11:102364400-102364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:102364400-102364600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:102364400-102364600	Flanking Active TSS	HepG2	liver
11	chr11:102364400-102365000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:102364400-102365000	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:102364400-102365000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:102364400-102365200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:102364400-102366200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:102364400-102366200	Enhancers	HMEC	breast
17	chr11:102364400-102366400	Enhancers	NHEK	skin
18	chr11:102364400-102366800	Enhancers	Hela-S3	cervix

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