Variant report

Variant	rs954686
Chromosome Location	chr5:40529578-40529579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1057631	1.00[ASN][1000 genomes]
rs10737963	1.00[ASN][1000 genomes]
rs13186505	1.00[ASN][1000 genomes]
rs2055645	1.00[ASN][1000 genomes]
rs4266456	1.00[ASN][1000 genomes]
rs4304113	1.00[ASN][1000 genomes]
rs4345353	1.00[ASN][1000 genomes]
rs72747942	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40519600-40551600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:40527000-40529600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:40528200-40531200	Enhancers	Dnd41	blood
4	chr5:40529200-40530400	Weak transcription	Primary T cells from cord blood	blood

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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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