Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54768464..54771380-chr6:54772937..54774749,2	MCF-7	breast:
2	chr6:54765548..54767184-chr6:54768955..54771943,2	MCF-7	breast:

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

rs_ID	r²[population]
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]
rs7762739	0.90[YRI][hapmap]
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	0.90[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]
rs9475061	1.00[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54758000-54769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:54758000-54775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:54762000-54775000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:54762200-54775000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:54763600-54775000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:54765600-54774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:54765800-54780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:54766800-54771600	Weak transcription	Fetal Lung	lung
9	chr6:54768400-54770000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:54768600-54770000	Enhancers	HMEC	breast
11	chr6:54769000-54780800	Weak transcription	NHEK	skin

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