Variant report

Variant	rs34242688
Chromosome Location	chr8:5293880-5293881
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10113826	0.80[EUR][1000 genomes]
rs11136887	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11787457	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998625	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13266465	0.96[ASN][1000 genomes]
rs1358125	0.91[ASN][1000 genomes]
rs1464987	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1534218	0.91[ASN][1000 genomes]
rs2091373	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2091375	0.82[EUR][1000 genomes]
rs2103222	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35688888	0.92[ASN][1000 genomes]
rs35758770	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4875553	0.91[ASN][1000 genomes]
rs4875554	0.91[ASN][1000 genomes]
rs4875556	0.80[EUR][1000 genomes]
rs4875559	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4875561	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6998095	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6998099	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6998228	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6998243	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6998402	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9644292	0.82[EUR][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	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	nsv1015849	chr8:5277538-5326609	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 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	chr8:5291800-5294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:5293400-5294200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:5293600-5294000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:5293600-5294000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:5293600-5295000	Enhancers	HUES64 Cell Line	embryonic stem cell

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