Variant report

Variant	rs685039
Chromosome Location	chr1:172176588-172176589
allele	A/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:10)

rs_ID	r²[population]
rs479185	1.00[AMR][1000 genomes]
rs493630	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs493657	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs530846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532194	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551742	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs558496	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs642312	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs650603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043064	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	nsv1000079	chr1:172146935-172230545	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv465650	chr1:172175115-172247127	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548192	chr1:172175115-172247127	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172176000-172176600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172176000-172177200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:172176200-172176600	Enhancers	HMEC	breast
4	chr1:172176200-172176600	Enhancers	NHEK	skin
5	chr1:172176400-172176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:172176400-172177400	Weak transcription	Primary T regulatory cells fromperipheralblood	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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