Variant report

Variant	rs6683513
Chromosome Location	chr1:47995602-47995603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47995283..47995856-chr1:48175927..48176879,2	K562	blood:
2	chr1:47990094..47992999-chr1:47995036..47996559,2	K562	blood:
3	chr1:47993755..47995620-chr1:47998509..48000093,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11211529	0.87[EUR][1000 genomes]
rs11211536	0.87[EUR][1000 genomes]
rs11808094	0.97[AFR][1000 genomes]
rs12021515	0.87[EUR][1000 genomes]
rs12026379	0.87[EUR][1000 genomes]
rs12030146	0.87[EUR][1000 genomes]
rs12032801	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12049163	0.87[EUR][1000 genomes]
rs12049416	0.87[EUR][1000 genomes]
rs1567309	0.92[AFR][1000 genomes]
rs1680019	0.87[EUR][1000 genomes]
rs17103177	0.87[EUR][1000 genomes]
rs17103179	0.87[EUR][1000 genomes]
rs17103196	0.87[EUR][1000 genomes]
rs1765156	0.87[EUR][1000 genomes]
rs1813427	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253511	0.87[EUR][1000 genomes]
rs2506984	0.87[EUR][1000 genomes]
rs2622906	0.87[EUR][1000 genomes]
rs2622911	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3738317	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4926868	0.87[EUR][1000 genomes]
rs495482	0.87[EUR][1000 genomes]
rs506329	0.87[EUR][1000 genomes]
rs522768	0.87[EUR][1000 genomes]
rs527430	0.87[EUR][1000 genomes]
rs557101	0.87[EUR][1000 genomes]
rs60042036	0.87[EUR][1000 genomes]
rs642750	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670118	0.95[AFR][1000 genomes]
rs6675052	0.85[AFR][1000 genomes]
rs6688084	0.95[AFR][1000 genomes]
rs6688278	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66904716	0.87[EUR][1000 genomes]
rs6703935	0.87[EUR][1000 genomes]
rs693036	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72480616	0.87[EUR][1000 genomes]
rs72553947	0.87[EUR][1000 genomes]
rs72553949	0.87[EUR][1000 genomes]
rs74069524	0.84[AFR][1000 genomes]
rs822886	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47994800-47995800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:47995600-47998600	Weak transcription	Liver	Liver

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