Variant report

Variant	rs73290125
Chromosome Location	chr17:17536967-17536968
allele	A/C
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:
2	chr17:17493631..17495252-chr17:17535439..17538029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs4924798	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4925050	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56259755	1.00[AMR][1000 genomes]
rs56850816	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930875	1.00[AMR][1000 genomes]
rs59079861	1.00[AMR][1000 genomes]
rs59304261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60358220	0.85[AMR][1000 genomes]
rs60624876	1.00[AMR][1000 genomes]
rs60811700	0.83[AMR][1000 genomes]
rs60834160	1.00[AMR][1000 genomes]
rs60942595	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7212625	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288121	0.83[AMR][1000 genomes]
rs73288127	1.00[AMR][1000 genomes]
rs73290111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290132	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302403	1.00[AMR][1000 genomes]
rs73302411	1.00[AMR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17528800-17543400	Weak transcription	Spleen	Spleen
2	chr17:17536000-17538600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr17:17536400-17537000	Enhancers	NHEK	skin
4	chr17:17536400-17537200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr17:17536400-17537200	Enhancers	HMEC	breast
6	chr17:17536600-17537000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr17:17536600-17537000	Enhancers	Esophagus	oesophagus
8	chr17:17536600-17537200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:17536600-17537200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:17536600-17537200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:17536800-17537200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:17536800-17537200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:17536800-17538600	Weak transcription	Primary monocytes fromperipheralblood	blood

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