Variant report

Variant	rs74029370
Chromosome Location	chr16:82097462-82097463
allele	C/G
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	POLR2A	chr16:82095528-82098545	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr16:82097292-82097816	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr16:82097248-82097817	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr16:82097252-82097806	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:82095854-82097871	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr16:82097381-82097731	HepG2	liver:	n/a	n/a
7	EP300	chr16:82097356-82097762	HepG2	liver:	n/a	n/a
8	FOS	chr16:82097176-82097924	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr16:82097177-82098197	MCF10A-Er-Src	breast:	n/a	chr16:82097630-82097641
10	FOXA1	chr16:82097308-82097812	HepG2	liver:	n/a	n/a
11	STAT3	chr16:82097442-82097819	MCF10A-Er-Src	breast:	n/a	chr16:82097630-82097641
12	FOS	chr16:82097445-82097719	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr16:82097221-82098097	MCF10A-Er-Src	breast:	n/a	chr16:82097630-82097641
14	FOXA1	chr16:82097304-82097794	HepG2	liver:	n/a	n/a
15	FOXA1	chr16:82097232-82097823	HepG2	liver:	n/a	n/a
16	FOS	chr16:82097202-82097935	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr16:82097177-82098157	MCF10A-Er-Src	breast:	n/a	chr16:82097630-82097641
18	E2F4	chr16:82097127-82097801	MCF10A-Er-Src	breast:	n/a	n/a

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16956282	1.00[EUR][1000 genomes]
rs16956326	1.00[EUR][1000 genomes]
rs4258604	1.00[EUR][1000 genomes]
rs4587969	1.00[EUR][1000 genomes]
rs7203108	1.00[EUR][1000 genomes]
rs73603089	1.00[EUR][1000 genomes]
rs74029368	1.00[EUR][1000 genomes]
rs74029369	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74029371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191100	1.00[EUR][1000 genomes]
rs8191102	1.00[EUR][1000 genomes]
rs8191163	1.00[EUR][1000 genomes]
rs8191165	0.83[AMR][1000 genomes]
rs8191181	1.00[EUR][1000 genomes]
rs8191187	1.00[EUR][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:33 , 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	chr16:82094600-82097600	Enhancers	Liver	Liver
6	chr16:82094600-82106200	Weak transcription	Lung	lung
7	chr16:82095400-82098000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:82095400-82098600	Enhancers	HMEC	breast
9	chr16:82095600-82097800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr16:82095600-82097800	Enhancers	Placenta	Placenta
11	chr16:82095600-82097800	Enhancers	NHLF	lung
12	chr16:82095600-82098000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr16:82095800-82097800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:82095800-82098000	Enhancers	NHEK	skin
15	chr16:82096000-82097600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:82096000-82097600	Enhancers	Osteobl	bone
17	chr16:82096000-82098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:82096200-82100400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:82096400-82097600	Enhancers	Esophagus	oesophagus
20	chr16:82096400-82098000	Genic enhancers	Duodenum Mucosa	Duodenum
21	chr16:82096400-82104000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:82096600-82099800	Weak transcription	Fetal Intestine Large	intestine
23	chr16:82096800-82098000	Enhancers	Fetal Intestine Small	intestine
24	chr16:82097000-82097600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr16:82097000-82098000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:82097000-82098000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr16:82097000-82098600	Enhancers	Stomach Mucosa	stomach
28	chr16:82097000-82104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:82097200-82097600	Enhancers	Small Intestine	intestine
30	chr16:82097200-82097800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:82097200-82100600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:82097400-82104000	Weak transcription	NHDF-Ad	bronchial
33	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon

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