Variant report

Variant	rs8191132
Chromosome Location	chr16:82101316-82101317
allele	C/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	HNF4A	chr16:82101137-82101511	HepG2	liver:	n/a	chr16:82101347-82101362 chr16:82101321-82101329 chr16:82101348-82101356
2	RAD21	chr16:82101214-82101333	HepG2	liver:	n/a	n/a
3	SP1	chr16:82101042-82101658	HepG2	liver:	n/a	chr16:82101569-82101576 chr16:82101506-82101520
4	HDAC2	chr16:82101090-82101518	HepG2	liver:	n/a	n/a
5	MAZ	chr16:82101163-82101440	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:82100591-82101396	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr16:82100991-82101696	HepG2	liver:	n/a	n/a
8	STAT3	chr16:82100665-82101530	MCF10A-Er-Src	breast:	n/a	chr16:82100981-82100989 chr16:82101080-82101094
9	MYC	chr16:82100460-82101359	MCF10A-Er-Src	breast:	n/a	chr16:82100859-82100868
10	EP300	chr16:82101169-82101524	HepG2	liver:	n/a	n/a
11	FOXA2	chr16:82101156-82101552	HepG2	liver:	n/a	n/a
12	RXRA	chr16:82101078-82101493	HepG2	liver:	n/a	n/a
13	NR2F2	chr16:82100969-82101877	HepG2	liver:	n/a	n/a
14	HNF4A	chr16:82101148-82101524	HepG2	liver:	n/a	chr16:82101347-82101362 chr16:82101321-82101329 chr16:82101348-82101356
15	HNF4G	chr16:82101134-82101537	HepG2	liver:	n/a	chr16:82101347-82101362 chr16:82101321-82101329 chr16:82101348-82101356
16	ARID3A	chr16:82101178-82101501	HepG2	liver:	n/a	n/a
17	EP300	chr16:82101060-82101570	HepG2	liver:	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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16956334	1.00[AMR][1000 genomes]
rs1981880	1.00[AMR][1000 genomes]
rs72547421	1.00[AMR][1000 genomes]
rs8191075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191093	1.00[AMR][1000 genomes]
rs8191110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191216	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:26 , 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	chr16:82094600-82106200	Weak transcription	Lung	lung
5	chr16:82096400-82104000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:82097000-82104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:82097400-82104000	Weak transcription	NHDF-Ad	bronchial
8	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
9	chr16:82097600-82103800	Weak transcription	Esophagus	oesophagus
10	chr16:82097800-82103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82098400-82101400	Enhancers	Liver	Liver
12	chr16:82099600-82108800	Strong transcription	Placenta	Placenta
13	chr16:82099800-82102000	Enhancers	Fetal Intestine Large	intestine
14	chr16:82100000-82101800	Enhancers	Fetal Intestine Small	intestine
15	chr16:82100600-82101400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr16:82100600-82102000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:82101000-82101600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:82101000-82104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:82101000-82108400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr16:82101200-82101400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:82101200-82101400	Enhancers	Fetal Stomach	stomach
22	chr16:82101200-82101400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr16:82101200-82101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:82101200-82101800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:82101200-82101800	Enhancers	HepG2	liver
26	chr16:82101200-82101800	Enhancers	HSMMtube	muscle

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