Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54741459..54745147-chr6:54761074..54763520,3	MCF-7	breast:
2	chr6:54761027..54762719-chr6:54763197..54766123,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16886169	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16886182	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16886273	0.84[AFR][1000 genomes]
rs1948818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2143797	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57032855	0.88[AFR][1000 genomes]
rs58327945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59549804	0.88[AFR][1000 genomes]
rs9464161	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9464162	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9464166	0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs9475057	0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475059	0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475060	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475062	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475064	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475067	0.92[AFR][1000 genomes]
rs9475072	0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs9475073	0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs9475075	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr6:54739800-54763000	Weak transcription	Small Intestine	intestine
2	chr6:54757200-54763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:54757800-54763200	Weak transcription	NHEK	skin
4	chr6:54758000-54769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:54758000-54775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:54759200-54763000	Weak transcription	Fetal Intestine Large	intestine
7	chr6:54761000-54762000	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:54761000-54762000	Enhancers	Stomach Mucosa	stomach
9	chr6:54761000-54762000	Strong transcription	HMEC	breast
10	chr6:54761000-54762200	Enhancers	Fetal Intestine Small	intestine
11	chr6:54761200-54762000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:54761200-54764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:54761800-54762000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:54761800-54762000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:54761800-54762000	Enhancers	NHLF	lung
16	chr6:54761800-54762800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:54761800-54762800	Enhancers	Osteobl	bone
18	chr6:54761800-54766800	Enhancers	Fetal Lung	lung

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