Variant report

Variant	rs8191119
Chromosome Location	chr16:82095255-82095256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81923547..81924618-chr16:82095228..82096136,4	K562	blood:
2	chr16:81974221..81975055-chr16:82095227..82096139,4	MCF-7	breast:
3	chr16:82089033..82091508-chr16:82094074..82095651,2	K562	blood:
4	chr16:81974156..81975014-chr16:82095141..82095762,2	K562	blood:
5	chr16:82094565..82097297-chr16:82099404..82102388,2	K562	blood:
6	chr16:82095196..82096036-chr16:82263712..82264246,2	MCF-7	breast:
7	chr16:81974410..81975126-chr16:82095007..82095937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086696	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16956406	1.00[AMR][1000 genomes]
rs4453484	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57362890	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72547419	1.00[AMR][1000 genomes]
rs8191129	1.00[AMR][1000 genomes]
rs8191147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191157	1.00[AMR][1000 genomes]
rs8191180	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8191195	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs8191204	1.00[AMR][1000 genomes]
rs8191212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1061709	chr16:82093183-82159867	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82086200-82103800	Weak transcription	Gastric	stomach
2	chr16:82089400-82105800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:82089600-82103800	Weak transcription	Pancreas	Pancrea
4	chr16:82090600-82095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:82090600-82095800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:82090600-82095800	Weak transcription	NHEK	skin
7	chr16:82090800-82101000	Enhancers	HepG2	liver
8	chr16:82092000-82096400	Enhancers	Fetal Intestine Small	intestine
9	chr16:82093400-82095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:82093800-82095400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:82093800-82095400	Weak transcription	HMEC	breast
12	chr16:82093800-82095600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:82093800-82096000	Weak transcription	Small Intestine	intestine
14	chr16:82094000-82096000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:82094200-82095400	Weak transcription	Stomach Mucosa	stomach
16	chr16:82094200-82095600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:82094200-82096000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:82094400-82095400	Weak transcription	NHDF-Ad	bronchial
19	chr16:82094400-82095600	Weak transcription	NHLF	lung
20	chr16:82094400-82097000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:82094600-82096400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:82094600-82096600	Weak transcription	Colonic Mucosa	Colon
23	chr16:82094600-82096600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:82094600-82097600	Enhancers	Liver	Liver
25	chr16:82094600-82106200	Weak transcription	Lung	lung
26	chr16:82095000-82095600	Weak transcription	Placenta	Placenta
27	chr16:82095000-82097000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:82095200-82096600	Enhancers	Fetal Intestine Large	intestine

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