Variant report

Variant	rs8191129
Chromosome Location	chr16:82100854-82100855
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr16:82100774-82100989	H1-hESC	embryonic stem cell:	n/a	chr16:82100857-82100868
2	POLR2A	chr16:82100591-82101396	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr16:82100670-82101146	IMR90	lung:	n/a	n/a
4	STAT3	chr16:82100659-82101315	MCF10A-Er-Src	breast:	n/a	chr16:82100981-82100989 chr16:82101080-82101094
5	FOS	chr16:82100628-82101267	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr16:82100665-82101530	MCF10A-Er-Src	breast:	n/a	chr16:82100981-82100989 chr16:82101080-82101094
7	MYC	chr16:82100460-82101359	MCF10A-Er-Src	breast:	n/a	chr16:82100859-82100868
8	FOS	chr16:82100758-82100931	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr16:82100687-82101278	MCF10A-Er-Src	breast:	n/a	chr16:82100981-82100989 chr16:82101080-82101094
10	FOS	chr16:82100650-82101283	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr16:82100662-82100912	MCF10A-Er-Src	breast:	n/a	chr16:82100859-82100868
12	POLR2A	chr16:82100600-82101180	MCF10A-Er-Src	breast:	n/a	n/a
13	USF1	chr16:82100706-82100936	HepG2	liver:	n/a	chr16:82100857-82100868
14	FOS	chr16:82100687-82101273	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr16:82100631-82100995	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82094565..82097297-chr16:82099404..82102388,2	K562	blood:

Variant related genes	Relation type
ENSG00000261235	TF binding region
HSD17B2	TF binding region
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16956406	1.00[AMR][1000 genomes]
rs4453484	1.00[AMR][1000 genomes]
rs57362890	1.00[AMR][1000 genomes]
rs72547419	1.00[AMR][1000 genomes]
rs8191119	1.00[AMR][1000 genomes]
rs8191147	1.00[AMR][1000 genomes]
rs8191157	1.00[AMR][1000 genomes]
rs8191180	0.92[AFR][1000 genomes];1.00[AMR][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:24 , 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	chr16:82090800-82101000	Enhancers	HepG2	liver
5	chr16:82094600-82106200	Weak transcription	Lung	lung
6	chr16:82096400-82104000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:82097000-82104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:82097400-82104000	Weak transcription	NHDF-Ad	bronchial
9	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
10	chr16:82097600-82103800	Weak transcription	Esophagus	oesophagus
11	chr16:82097800-82103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:82098400-82101400	Enhancers	Liver	Liver
13	chr16:82099600-82108800	Strong transcription	Placenta	Placenta
14	chr16:82099800-82102000	Enhancers	Fetal Intestine Large	intestine
15	chr16:82100000-82101800	Enhancers	Fetal Intestine Small	intestine
16	chr16:82100400-82101000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr16:82100600-82101000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:82100600-82101200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:82100600-82101200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr16:82100600-82101400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr16:82100600-82102000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:82100800-82101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:82100800-82101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:82100800-82101200	Weak transcription	Rectal Mucosa Donor 29	rectum

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