Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82078303..82081047-chr16:82203000..82205229,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261029	Chromatin interaction
ENSG00000135698	Chromatin interaction

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4318193	0.81[YRI][hapmap]
rs7184155	0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7201121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205168	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7205968	0.88[AFR][1000 genomes]
rs7206573	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8047385	0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8049006	0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8049510	0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049750	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8050327	0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191048	0.89[YRI][hapmap]
rs8191049	0.82[YRI][hapmap]
rs8191077	0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191089	0.98[AFR][1000 genomes];0.87[AMR][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	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
4	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 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	chr16:82070200-82083400	Weak transcription	Colonic Mucosa	Colon
2	chr16:82070800-82081200	Weak transcription	Pancreas	Pancrea
3	chr16:82074200-82085600	Enhancers	HepG2	liver
4	chr16:82075200-82082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:82076600-82094800	Enhancers	Fetal Intestine Large	intestine
6	chr16:82077000-82083800	Weak transcription	Lung	lung
7	chr16:82078200-82081000	Genic enhancers	Duodenum Mucosa	Duodenum
8	chr16:82078600-82081400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:82079400-82081400	Enhancers	Esophagus	oesophagus
10	chr16:82079800-82080800	Weak transcription	Fetal Intestine Small	intestine
11	chr16:82079800-82080800	Weak transcription	Stomach Mucosa	stomach
12	chr16:82079800-82082800	Weak transcription	Placenta	Placenta
13	chr16:82079800-82082800	Weak transcription	Gastric	stomach
14	chr16:82079800-82082800	Weak transcription	Small Intestine	intestine
15	chr16:82079800-82084200	Weak transcription	Fetal Lung	lung
16	chr16:82080000-82089200	Enhancers	Liver	Liver
17	chr16:82080200-82086400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr16:82080600-82080800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:82080600-82081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:82080600-82081000	Weak transcription	Rectal Mucosa Donor 29	rectum

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