Variant report

Variant	rs8054931
Chromosome Location	chr16:82066971-82066972
allele	A/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	NFIC	chr16:82066686-82067036	ECC-1	luminal epithelium:	n/a	chr16:82066784-82066800 chr16:82066836-82066852 chr16:82066784-82066801

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82065223..82067133-chr16:82262887..82264649,2	MCF-7	breast:

Variant related genes	Relation type
HSD17B2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11150436	1.00[EUR][1000 genomes]
rs8045403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063114	1.00[EUR][1000 genomes]
rs8191050	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926211	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82064800-82069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:82065000-82068200	Enhancers	NHEK	skin
3	chr16:82065000-82069400	Enhancers	HMEC	breast
4	chr16:82065200-82068000	Enhancers	Liver	Liver
5	chr16:82065600-82068400	Weak transcription	Fetal Lung	lung
6	chr16:82065800-82067000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:82065800-82067200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:82065800-82068000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr16:82065800-82068200	Weak transcription	NH-A	brain
10	chr16:82065800-82068400	Weak transcription	NHLF	lung
11	chr16:82066000-82067000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:82066000-82067000	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:82066000-82067000	Weak transcription	HUVEC	blood vessel
14	chr16:82066000-82068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:82066200-82067400	Enhancers	Placenta	Placenta
16	chr16:82066200-82067400	Enhancers	Gastric	stomach
17	chr16:82066400-82067400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:82066400-82068000	Enhancers	Fetal Intestine Large	intestine
19	chr16:82066400-82068200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr16:82066400-82068400	Enhancers	Fetal Intestine Small	intestine
21	chr16:82066400-82069200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:82066600-82067000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr16:82066600-82067400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr16:82066600-82067400	Enhancers	Small Intestine	intestine
25	chr16:82066600-82067800	Enhancers	Pancreas	Pancrea
26	chr16:82066600-82068000	Enhancers	HepG2	liver
27	chr16:82066600-82068200	Enhancers	Stomach Mucosa	stomach
28	chr16:82066800-82067000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:82066800-82067400	Enhancers	Esophagus	oesophagus
30	chr16:82066800-82067600	Enhancers	Colonic Mucosa	Colon
31	chr16:82066800-82067800	Enhancers	Lung	lung
32	chr16:82066800-82069400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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