Variant report

Variant	rs60637504
Chromosome Location	chr17:50313882-50313883
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55797565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59868824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61398454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73987612	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73987613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73987618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8079718	1.00[AFR][1000 genomes];1.00[AMR][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	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1064193	chr17:50270352-50320667	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1064285	chr17:50290372-50507829	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv543385	chr17:50290372-50507829	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3345563	chr17:50313705-50314130	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50312000-50314200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:50313600-50314600	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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