Variant report

Variant	rs12601185
Chromosome Location	chr17:17541559-17541560
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17534528..17537339-chr17:17540649..17542204,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12600976	0.91[ASN][1000 genomes]
rs35474845	0.89[ASN][1000 genomes]
rs4924797	0.88[ASN][1000 genomes]
rs4925048	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4925049	0.89[ASN][1000 genomes]
rs4925051	0.89[ASN][1000 genomes]
rs55793618	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55844525	0.89[ASN][1000 genomes]
rs57226466	0.86[ASN][1000 genomes]
rs57608533	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60410257	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60441671	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6502611	0.90[ASN][1000 genomes]
rs7209194	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7209666	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7219777	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7225010	0.91[ASN][1000 genomes]
rs73290118	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73290119	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73290129	0.90[ASN][1000 genomes]
rs73290131	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8074272	0.89[ASN][1000 genomes]
rs9890324	0.90[ASN][1000 genomes]
rs9896880	0.82[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][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:12 , 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	chr17:17539600-17543000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:17540000-17545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:17540200-17541600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:17540200-17542000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr17:17540200-17543200	Weak transcription	Adipose Nuclei	Adipose
10	chr17:17541000-17545400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:17541200-17542200	Weak transcription	Fetal Lung	lung
12	chr17:17541200-17545000	Weak transcription	Fetal Stomach	stomach

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