Variant report

Variant	rs726217
Chromosome Location	chr20:23584116-23584117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2093145	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2104006	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424566	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424567	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424574	0.88[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424576	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs2424577	0.88[CEU][hapmap];0.91[CHB][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2424581	0.82[EUR][1000 genomes]
rs2983636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2983640	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2983644	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3004144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs984503	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs726217	CST3	cis	parietal	SCAN
rs726217	CST3	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23581600-23584600	Enhancers	Fetal Thymus	thymus
2	chr20:23582200-23584400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23582600-23584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:23583400-23584200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:23583400-23594000	Weak transcription	Right Atrium	heart
6	chr20:23583600-23587600	Weak transcription	Spleen	Spleen
7	chr20:23584000-23584400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr20:23584000-23587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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