Variant report

Variant	rs6573467
Chromosome Location	chr14:63401585-63401586
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10134985	0.93[CEU][hapmap]
rs10483762	1.00[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs10873164	0.92[CEU][hapmap]
rs11158459	1.00[CEU][hapmap]
rs11623063	1.00[CEU][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11625796	0.83[ASW][hapmap];0.96[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11628836	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12431704	0.93[CEU][hapmap]
rs12588293	1.00[CEU][hapmap]
rs12589408	0.84[CHD][hapmap]
rs12881527	0.96[CEU][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs12881682	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs12883703	0.81[CHD][hapmap];0.81[MEX][hapmap]
rs1950572	1.00[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap]
rs1956024	1.00[CEU][hapmap]
rs1956026	0.91[CHB][hapmap]
rs1956027	0.85[CEU][hapmap];0.81[MEX][hapmap]
rs1980561	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs2144775	0.89[CEU][hapmap]
rs2356098	0.93[EUR][1000 genomes]
rs243146	0.84[CHD][hapmap]
rs6573462	0.93[CEU][hapmap]
rs6573466	1.00[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap]
rs7155227	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7155469	0.83[ASW][hapmap];0.96[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7156354	0.83[ASW][hapmap];0.96[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8015097	0.93[CEU][hapmap]
rs8019236	1.00[CEU][hapmap]
rs9972116	0.96[CEU][hapmap]

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6573467	HIF1A	cis	cerebellum	SCAN
rs6573467	SYT16	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63399400-63402400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:63399800-63401800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:63399800-63402000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:63400000-63401600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:63400000-63402000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:63400200-63401800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:63400400-63402000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:63400400-63402400	Enhancers	Brain Germinal Matrix	brain
9	chr14:63400600-63402000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:63401000-63401800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:63401200-63401800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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