Variant report

Variant	rs10251593
Chromosome Location	chr7:53668341-53668342
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10226425	1.00[AMR][1000 genomes]
rs10236395	1.00[AMR][1000 genomes]
rs10240484	1.00[AMR][1000 genomes]
rs28664177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4425709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55919746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60843326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696729	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948546	chr7:53538304-54337148	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1032785	chr7:53660651-53758673	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53655600-53671400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:53663800-53670400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:53664200-53670400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:53664600-53670400	Weak transcription	HMEC	breast
5	chr7:53667800-53668600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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