Variant report

Variant	rs8082473
Chromosome Location	chr17:17540923-17540924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56259755	1.00[EUR][1000 genomes]
rs59542163	1.00[EUR][1000 genomes]
rs60624876	1.00[EUR][1000 genomes]
rs73288127	1.00[EUR][1000 genomes]
rs73290132	1.00[EUR][1000 genomes]
rs73981004	1.00[EUR][1000 genomes]
rs73981006	1.00[EUR][1000 genomes]
rs73981015	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17528800-17543400	Weak transcription	Spleen	Spleen
2	chr17:17537200-17541600	Weak transcription	HMEC	breast
3	chr17:17537200-17541800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:17537200-17541800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:17538600-17541000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr17:17539200-17541200	Enhancers	Fetal Muscle Leg	muscle
7	chr17:17539200-17541200	Enhancers	Fetal Stomach	stomach
8	chr17:17539400-17541200	Enhancers	Fetal Lung	lung
9	chr17:17539600-17543000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:17540000-17545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:17540200-17541600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:17540200-17542000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr17:17540200-17543200	Weak transcription	Adipose Nuclei	Adipose
14	chr17:17540600-17541200	Enhancers	Fetal Muscle Trunk	muscle
15	chr17:17540800-17541000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:17540800-17541200	Enhancers	Lung	lung

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