Variant report

Variant	rs717059
Chromosome Location	chr14:63502865-63502866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63493002..63496653-chr14:63500576..63504134,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1007062	0.87[CEU][hapmap]
rs10130015	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs10132214	0.82[CEU][hapmap]
rs10132410	0.82[CEU][hapmap]
rs10139542	0.82[CEU][hapmap]
rs10141458	0.87[CEU][hapmap]
rs10142476	0.83[CEU][hapmap]
rs11158468	0.87[CEU][hapmap]
rs11158469	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12587142	0.87[CEU][hapmap]
rs12587171	0.87[CEU][hapmap]
rs1950986	0.88[CEU][hapmap]
rs1950987	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1950990	0.83[CEU][hapmap]
rs1956673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956674	0.85[CHB][hapmap];0.85[JPT][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1956675	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3910327	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3910328	0.83[CEU][hapmap]
rs4609762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573475	0.87[CEU][hapmap]
rs6573476	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs6573477	0.86[CEU][hapmap]
rs7154634	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156008	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7159483	0.83[CEU][hapmap]
rs7160761	0.83[CEU][hapmap]
rs8004263	0.87[CEU][hapmap];0.81[MEX][hapmap];0.85[AMR][1000 genomes]
rs8005258	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs8018212	0.87[CEU][hapmap]
rs8021399	0.87[CEU][hapmap];0.85[AMR][1000 genomes]
rs8021914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323430	0.83[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs717059	HIF1A	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63499800-63507000	Weak transcription	Hela-S3	cervix
2	chr14:63502600-63503000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:63502800-63503000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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