Variant report

Variant	rs62066215
Chromosome Location	chr17:17540249-17540250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17408580..17410172-chr17:17539705..17541286,2	MCF-7	breast:
2	chr17:17538613..17541459-chr17:17584706..17586217,2	K562	blood:

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11651957	0.83[EUR][1000 genomes]
rs11659047	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28454257	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28715719	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28884183	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56044345	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56177028	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56327101	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57638011	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62066216	0.96[EUR][1000 genomes]
rs7217764	0.85[EUR][1000 genomes]
rs7219568	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7222759	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73978990	0.85[EUR][1000 genomes]
rs8071007	0.85[EUR][1000 genomes]
rs8074981	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8076601	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8077671	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9896285	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9910151	0.87[EUR][1000 genomes]
rs9911823	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9912678	0.94[EUR][1000 genomes]
rs9914118	0.84[AMR][1000 genomes];0.87[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:15 , 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	chr17:17539200-17540400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr17:17539200-17541200	Enhancers	Fetal Muscle Leg	muscle
8	chr17:17539200-17541200	Enhancers	Fetal Stomach	stomach
9	chr17:17539400-17541200	Enhancers	Fetal Lung	lung
10	chr17:17539600-17540600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:17539600-17543000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:17540000-17545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:17540200-17541600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:17540200-17542000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr17:17540200-17543200	Weak transcription	Adipose Nuclei	Adipose

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