Variant report

Variant	rs56259755
Chromosome Location	chr17:17539820-17539821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17398413..17401116-chr17:17538361..17540109,2	MCF-7	breast:
2	chr17:17408580..17410172-chr17:17539705..17541286,2	MCF-7	breast:
3	chr17:17538613..17541459-chr17:17584706..17586217,2	K562	blood:

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000108551	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs4924798	1.00[AMR][1000 genomes]
rs4925050	1.00[AMR][1000 genomes]
rs56850816	1.00[AMR][1000 genomes]
rs58930875	1.00[AMR][1000 genomes]
rs59079861	1.00[AMR][1000 genomes]
rs59304261	1.00[AMR][1000 genomes]
rs59542163	1.00[EUR][1000 genomes]
rs60358220	0.85[AMR][1000 genomes]
rs60624876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60811700	0.83[AMR][1000 genomes]
rs60834160	1.00[AMR][1000 genomes]
rs60942595	1.00[AMR][1000 genomes]
rs7212625	1.00[AMR][1000 genomes]
rs73288112	1.00[AMR][1000 genomes]
rs73288121	0.83[AMR][1000 genomes]
rs73288127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290111	1.00[AMR][1000 genomes]
rs73290125	1.00[AMR][1000 genomes]
rs73290132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302403	1.00[AMR][1000 genomes]
rs73302411	1.00[AMR][1000 genomes]
rs73981004	1.00[EUR][1000 genomes]
rs73981006	1.00[EUR][1000 genomes]
rs73981015	1.00[EUR][1000 genomes]
rs8082473	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:21 , 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	chr17:17538800-17540200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr17:17539200-17540200	Enhancers	Adipose Nuclei	Adipose
8	chr17:17539200-17540400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr17:17539200-17541200	Enhancers	Fetal Muscle Leg	muscle
10	chr17:17539200-17541200	Enhancers	Fetal Stomach	stomach
11	chr17:17539400-17540000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:17539400-17540000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr17:17539400-17540200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:17539400-17540200	Enhancers	Brain Anterior Caudate	brain
15	chr17:17539400-17541200	Enhancers	Fetal Lung	lung
16	chr17:17539600-17540000	Enhancers	Brain Hippocampus Middle	brain
17	chr17:17539600-17540200	Enhancers	Brain Cingulate Gyrus	brain
18	chr17:17539600-17540200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:17539600-17540200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr17:17539600-17540600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:17539600-17543000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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