Variant report

Variant	rs57362890
Chromosome Location	chr16:82098435-82098436
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	POLR2A	chr16:82095528-82098545	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: 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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72547419	1.00[AMR][1000 genomes]
rs8191119	0.81[AFR][1000 genomes];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[AMR][1000 genomes]
rs8191195	0.95[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: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	chr16:82095400-82098600	Enhancers	HMEC	breast
7	chr16:82096200-82100400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:82096400-82104000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:82096600-82099800	Weak transcription	Fetal Intestine Large	intestine
10	chr16:82097000-82098600	Enhancers	Stomach Mucosa	stomach
11	chr16:82097000-82104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:82097200-82100600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:82097400-82104000	Weak transcription	NHDF-Ad	bronchial
14	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
15	chr16:82097600-82099000	Weak transcription	Osteobl	bone
16	chr16:82097600-82100600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:82097600-82103800	Weak transcription	Esophagus	oesophagus
18	chr16:82097800-82099600	Weak transcription	Placenta	Placenta
19	chr16:82097800-82103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:82098000-82099000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:82098000-82100000	Weak transcription	Fetal Intestine Small	intestine
22	chr16:82098000-82100400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr16:82098000-82100600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:82098400-82101400	Enhancers	Liver	Liver

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