Variant report

Variant	rs7194550
Chromosome Location	chr16:80081211-80081212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12051191	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12597421	0.93[EUR][1000 genomes]
rs12597942	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4286117	0.96[EUR][1000 genomes]
rs4441287	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4461085	0.95[EUR][1000 genomes]
rs4888065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4888066	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889071	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889072	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889073	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6564725	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196219	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80072800-80085200	Weak transcription	Esophagus	oesophagus
2	chr16:80079200-80081400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:80079800-80081600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:80081000-80092200	Weak transcription	Right Atrium	heart
5	chr16:80081200-80085000	Weak transcription	Ovary	ovary

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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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