Variant report

Variant	rs950043
Chromosome Location	chr8:5268368-5268369
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10866990	0.81[EUR][1000 genomes]
rs11136873	0.83[AFR][1000 genomes]
rs1526364	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7842188	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv609902	chr8:5088786-5533605	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031427	chr8:5129076-5603378	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023746	chr8:5200421-5310807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1033879	chr8:5200421-5406984	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv539409	chr8:5200421-5406984	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1025476	chr8:5248337-5287056	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv1028546	chr8:5248836-5287056	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv1016279	chr8:5249356-5291548	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv539410	chr8:5249356-5291548	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5268000-5269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:5268000-5269600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:5268000-5269600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:5268200-5268400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:5268200-5268600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:5268200-5268800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:5268200-5269200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:5268200-5269600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:5268200-5270000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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