Variant report

Variant	rs72850331
Chromosome Location	chr17:63126585-63126586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12325695	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12325697	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12325701	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12325705	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16960426	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409583	0.83[EUR][1000 genomes]
rs421100	0.83[EUR][1000 genomes]
rs421516	0.83[EUR][1000 genomes]
rs426851	0.83[EUR][1000 genomes]
rs525978	0.83[EUR][1000 genomes]
rs56391935	1.00[ASN][1000 genomes]
rs72850328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850352	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850373	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72850379	0.83[EUR][1000 genomes];0.95[ASN][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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv527042	chr17:63123532-63128261	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63118800-63127000	Weak transcription	Spleen	Spleen
2	chr17:63119800-63133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:63124000-63132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:63126200-63127000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
5	chr17:63126200-63127200	Enhancers	Primary hematopoietic stem cells	blood
6	chr17:63126200-63127600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:63126400-63127800	Enhancers	K562	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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