Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:54787385..54788945-chr6:54793642..54795973,2	MCF-7	breast:
2	chr6:54793235..54795806-chr6:54798273..54802120,4	MCF-7	breast:
3	chr6:54711527..54714203-chr6:54793086..54795700,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16886169	0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs16886182	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs16886273	0.92[AFR][1000 genomes]
rs1948818	0.92[AFR][1000 genomes]
rs2143797	0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs57032855	0.96[AFR][1000 genomes]
rs58327945	0.92[AFR][1000 genomes]
rs59549804	0.96[AFR][1000 genomes]
rs7762739	0.91[YRI][hapmap]
rs9464154	1.00[AMR][1000 genomes]
rs9464157	1.00[AMR][1000 genomes]
rs9464161	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs9464162	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs9464163	1.00[AMR][1000 genomes]
rs9464166	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9475050	1.00[AMR][1000 genomes]
rs9475051	1.00[AMR][1000 genomes]
rs9475052	1.00[AMR][1000 genomes]
rs9475053	1.00[AMR][1000 genomes]
rs9475054	1.00[AMR][1000 genomes]
rs9475057	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs9475059	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs9475060	0.84[YRI][hapmap];0.92[AFR][1000 genomes]
rs9475061	0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs9475062	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs9475064	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs9475067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475073	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475075	0.96[AFR][1000 genomes]
rs9475126	1.00[AMR][1000 genomes]
rs9475144	0.83[YRI][hapmap]

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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54776000-54796800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:54781800-54796800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:54785600-54805000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:54786800-54800000	Weak transcription	Hela-S3	cervix
5	chr6:54789800-54810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:54790000-54800200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:54791400-54797000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:54791400-54798000	Weak transcription	Fetal Intestine Large	intestine
9	chr6:54791400-54798600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:54792400-54795600	Strong transcription	HMEC	breast
11	chr6:54793200-54797400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:54793600-54795400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:54794200-54795200	Strong transcription	NHEK	skin
14	chr6:54794400-54796000	Enhancers	HepG2	liver
15	chr6:54794400-54796400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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