Variant report

Variant	rs8009519
Chromosome Location	chr14:81702503-81702504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81695496..81699679-chr14:81700603..81703669,3	K562	blood:
2	chr14:81686241..81688749-chr14:81701998..81704279,2	K562	blood:
3	chr14:81644138..81645856-chr14:81700213..81702978,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1035948	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11159493	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11159494	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622105	0.83[AFR][1000 genomes]
rs11850714	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12590764	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1864167	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1885601	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1951614	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1951615	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957549	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991516	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288497	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288499	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371570	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2371571	0.82[AFR][1000 genomes]
rs28890880	0.81[EUR][1000 genomes]
rs3815953	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4363794	0.84[EUR][1000 genomes]
rs55643303	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs55822231	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56835982	0.91[AFR][1000 genomes]
rs61980899	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980900	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574631	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7141288	0.93[AFR][1000 genomes]
rs7160342	0.82[AFR][1000 genomes]
rs7160569	0.82[AFR][1000 genomes]
rs72695758	0.80[AFR][1000 genomes]
rs759939	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004096	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8008870	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8011097	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015423	0.84[AFR][1000 genomes]
rs8019108	0.82[AFR][1000 genomes]
rs8021125	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8021385	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9646167	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9806027	0.83[EUR][1000 genomes]
rs9944085	0.82[AFR][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81688200-81704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:81701000-81703400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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