Variant report

Variant	rs56044345
Chromosome Location	chr17:17518025-17518026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17255767..17258601-chr17:17515737..17518655,2	K562	blood:
2	chr17:17493364..17496787-chr17:17515536..17518702,4	MCF-7	breast:
3	chr17:17512228..17514330-chr17:17515822..17518656,2	K562	blood:

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000264666	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11651957	0.93[EUR][1000 genomes]
rs11659047	0.91[EUR][1000 genomes]
rs28454257	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28583584	0.83[EUR][1000 genomes]
rs28652618	0.83[EUR][1000 genomes]
rs28715719	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28884183	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030759	0.81[EUR][1000 genomes]
rs56177028	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56327101	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57638011	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62066215	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62066216	0.85[EUR][1000 genomes]
rs7214988	0.83[EUR][1000 genomes]
rs7217764	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7219568	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7222759	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7224725	0.83[EUR][1000 genomes]
rs73978990	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8071007	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8074981	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8076601	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077671	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896285	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910151	0.98[EUR][1000 genomes]
rs9911823	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912678	0.83[EUR][1000 genomes]
rs9914118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9944423	0.83[EUR][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	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17516000-17519200	Weak transcription	Right Atrium	heart
2	chr17:17517200-17529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:17517400-17522800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr17:17517400-17522800	Weak transcription	Monocytes-CD14+_RO01746	blood

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