Variant report

Variant	rs8191127
Chromosome Location	chr16:82100489-82100490
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	MYC	chr16:82100460-82101359	MCF10A-Er-Src	breast:	n/a	chr16:82100859-82100868

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

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

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16956351	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16956356	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16956360	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16956363	1.00[AMR][1000 genomes]
rs57981289	1.00[AMR][1000 genomes]
rs58349358	1.00[AMR][1000 genomes]
rs58442388	1.00[AMR][1000 genomes]
rs59037033	1.00[AMR][1000 genomes]
rs59166161	1.00[AMR][1000 genomes]
rs60135185	1.00[AMR][1000 genomes]
rs61121331	1.00[AMR][1000 genomes]
rs7184886	1.00[AMR][1000 genomes]
rs7196477	1.00[AMR][1000 genomes]
rs73598786	1.00[AMR][1000 genomes]
rs73598792	1.00[AMR][1000 genomes]
rs73600703	1.00[AMR][1000 genomes]
rs73600704	1.00[AMR][1000 genomes]
rs73600707	1.00[AMR][1000 genomes]
rs73600711	1.00[AMR][1000 genomes]
rs73600737	1.00[AMR][1000 genomes]
rs73600744	1.00[AMR][1000 genomes]
rs73600745	1.00[AMR][1000 genomes]
rs73600748	1.00[AMR][1000 genomes]
rs73600749	1.00[AMR][1000 genomes]
rs73600765	1.00[AMR][1000 genomes]
rs73600770	1.00[AMR][1000 genomes]
rs73603043	1.00[AMR][1000 genomes]
rs73603046	1.00[AMR][1000 genomes]
rs73603049	1.00[AMR][1000 genomes]
rs73603061	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:22 , 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	chr16:82097200-82100600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:82097400-82104000	Weak transcription	NHDF-Ad	bronchial
10	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
11	chr16:82097600-82100600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:82097600-82103800	Weak transcription	Esophagus	oesophagus
13	chr16:82097800-82103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82098000-82100600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:82098400-82101400	Enhancers	Liver	Liver
16	chr16:82099400-82100600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:82099600-82108800	Strong transcription	Placenta	Placenta
18	chr16:82099800-82102000	Enhancers	Fetal Intestine Large	intestine
19	chr16:82100000-82101800	Enhancers	Fetal Intestine Small	intestine
20	chr16:82100400-82100600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:82100400-82100800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:82100400-82101000	Weak transcription	Duodenum Mucosa	Duodenum

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