Variant report

Variant	rs2964250
Chromosome Location	chr5:152070170-152070171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2961758	1.00[EUR][1000 genomes]
rs2964232	1.00[EUR][1000 genomes]
rs2964257	1.00[EUR][1000 genomes]
rs2974555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2974557	1.00[EUR][1000 genomes]
rs4501329	1.00[EUR][1000 genomes]
rs6875946	1.00[EUR][1000 genomes]
rs7723946	1.00[EUR][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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152067600-152070400	Enhancers	HMEC	breast
2	chr5:152068000-152070600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:152068200-152070800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:152068600-152070800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:152069200-152070200	Weak transcription	HSMM	muscle

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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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