Variant report

Variant	rs7538857
Chromosome Location	chr1:193296520-193296521
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	chr1:193296415..193298204-chr1:193307426..193309237,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16835301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056062	0.84[AFR][1000 genomes]
rs56238040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57648443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57963089	1.00[AMR][1000 genomes]
rs60899083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61090037	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681856	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701516	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130951	1.00[AMR][1000 genomes]
rs74130952	1.00[AMR][1000 genomes]
rs74130953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130958	1.00[AMR][1000 genomes]
rs74130959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130965	1.00[AMR][1000 genomes]
rs74130966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130967	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193295200-193297600	Weak transcription	HSMM	muscle
2	chr1:193295800-193297200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:193295800-193299200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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