Variant report

Variant	rs478069
Chromosome Location	chr8:102877071-102877072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102876704..102878618-chr8:102883254..102885597,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1148498	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1148501	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1264865	0.83[EUR][1000 genomes]
rs1264866	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1264942	0.80[EUR][1000 genomes]
rs1264952	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1264953	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1264954	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2509895	0.84[AMR][1000 genomes]
rs35473722	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473498	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs477236	0.81[ASN][1000 genomes]
rs478092	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs478875	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs478896	0.81[ASN][1000 genomes]
rs480955	0.83[ASN][1000 genomes]
rs484657	0.85[EUR][1000 genomes]
rs486196	0.83[ASN][1000 genomes]
rs486496	0.84[EUR][1000 genomes]
rs490032	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs490096	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs490125	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs497905	0.80[ASN][1000 genomes]
rs505460	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs506026	0.88[EUR][1000 genomes]
rs508386	0.81[EUR][1000 genomes]
rs512202	0.85[EUR][1000 genomes]
rs534512	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs539663	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs543897	0.82[EUR][1000 genomes]
rs544821	0.85[EUR][1000 genomes]
rs544928	0.81[ASN][1000 genomes]
rs553463	0.84[EUR][1000 genomes]
rs554945	0.82[EUR][1000 genomes]
rs557654	0.82[EUR][1000 genomes]
rs558159	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs558985	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs561000	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs562037	0.81[ASN][1000 genomes]
rs563463	0.81[ASN][1000 genomes]
rs564718	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs566264	0.83[ASN][1000 genomes]
rs566501	0.85[ASN][1000 genomes]
rs571673	0.83[EUR][1000 genomes]
rs572692	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs578603	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1030076	chr8:102866179-102896458	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102869200-102880200	Weak transcription	Aorta	Aorta
2	chr8:102870000-102891200	Weak transcription	Ovary	ovary
3	chr8:102870600-102879000	Weak transcription	Small Intestine	intestine
4	chr8:102871000-102880400	Weak transcription	Psoas Muscle	Psoas
5	chr8:102871000-102880800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:102876600-102879200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:102876600-102880400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:102876600-102883400	Weak transcription	NHDF-Ad	bronchial
9	chr8:102876800-102879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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