Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79633359..79635982-chr16:79642565..79646625,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178573	Chromatin interaction

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1045394	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28465222	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34511487	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8055339	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8059614	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889473	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv457554	chr16:79608408-79645989	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv573289	chr16:79608408-79645989	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79635600-79652400	Weak transcription	Spleen	Spleen
2	chr16:79636200-79653800	Weak transcription	Right Atrium	heart
3	chr16:79636800-79646400	Weak transcription	NHLF	lung
4	chr16:79640800-79650800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr16:79641200-79647400	Enhancers	Fetal Intestine Large	intestine
6	chr16:79642000-79646200	Weak transcription	HSMM	muscle
7	chr16:79642200-79646400	Weak transcription	NH-A	brain
8	chr16:79642200-79651800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:79643600-79647400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:79644000-79648000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:79644200-79647200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:79644600-79648000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:79644800-79646400	Weak transcription	Osteobl	bone
14	chr16:79644800-79646600	Weak transcription	NHEK	skin
15	chr16:79645000-79646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:79645000-79652400	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:79645200-79646400	Weak transcription	HMEC	breast
18	chr16:79645200-79652400	Weak transcription	Placenta	Placenta
19	chr16:79645400-79646800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:79645400-79647000	Enhancers	Fetal Intestine Small	intestine

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