Variant report

Variant	rs59227891
Chromosome Location	chr1:67592619-67592620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11799729	0.88[EUR][1000 genomes]
rs11799739	0.84[EUR][1000 genomes]
rs11800698	0.88[EUR][1000 genomes]
rs11801593	0.88[EUR][1000 genomes]
rs11801606	0.88[EUR][1000 genomes]
rs11803348	0.88[EUR][1000 genomes]
rs11804496	0.88[EUR][1000 genomes]
rs11804614	0.88[EUR][1000 genomes]
rs11805123	0.88[EUR][1000 genomes]
rs11806560	0.88[EUR][1000 genomes]
rs11807091	0.88[EUR][1000 genomes]
rs11808071	0.88[EUR][1000 genomes]
rs12239376	0.88[EUR][1000 genomes]
rs17129650	0.88[EUR][1000 genomes]
rs17129655	0.86[EUR][1000 genomes]
rs17129657	0.88[EUR][1000 genomes]
rs17129659	0.88[EUR][1000 genomes]
rs1885278	0.88[EUR][1000 genomes]
rs1885279	0.88[EUR][1000 genomes]
rs1885280	0.88[EUR][1000 genomes]
rs28721308	0.88[EUR][1000 genomes]
rs56823396	0.88[EUR][1000 genomes]
rs57866473	0.88[EUR][1000 genomes]
rs59583803	0.88[EUR][1000 genomes]
rs60710740	0.88[EUR][1000 genomes]
rs6657891	0.86[EUR][1000 genomes]
rs6685003	0.88[EUR][1000 genomes]
rs72922814	0.88[EUR][1000 genomes]
rs72922833	0.88[EUR][1000 genomes]
rs72931969	0.88[EUR][1000 genomes]
rs72931971	0.88[EUR][1000 genomes]
rs72933963	0.88[EUR][1000 genomes]
rs72933965	0.88[EUR][1000 genomes]
rs72933967	0.88[EUR][1000 genomes]
rs72933970	0.88[EUR][1000 genomes]
rs72933972	0.88[EUR][1000 genomes]
rs72933974	0.88[EUR][1000 genomes]
rs72933975	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870950	chr1:67575549-67627260	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67585400-67600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:67592000-67593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:67592600-67598600	Weak transcription	K562	blood
4	chr1:67592600-67600200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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