Variant report

Variant	rs517856
Chromosome Location	chr1:93512762-93512763
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93507541..93509653-chr1:93511685..93513516,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11164860	0.82[ASN][1000 genomes]
rs11164861	0.86[ASN][1000 genomes]
rs12022729	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023767	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027025	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039256	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12043577	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12119421	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12130551	0.86[ASN][1000 genomes]
rs12134501	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141895	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678778	0.93[ASN][1000 genomes]
rs2086312	0.84[ASN][1000 genomes]
rs2253595	0.93[ASN][1000 genomes]
rs2492898	0.97[ASN][1000 genomes]
rs2815417	0.80[ASN][1000 genomes]
rs2928183	0.85[ASN][1000 genomes]
rs4626900	0.96[ASN][1000 genomes]
rs4847227	0.93[ASN][1000 genomes]
rs485336	0.98[ASN][1000 genomes]
rs486370	0.85[ASN][1000 genomes]
rs492054	0.81[ASN][1000 genomes]
rs492754	0.81[ASN][1000 genomes]
rs496465	0.82[ASN][1000 genomes]
rs497540	0.82[ASN][1000 genomes]
rs504418	0.93[ASN][1000 genomes]
rs521527	0.93[ASN][1000 genomes]
rs524045	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs536837	0.84[ASN][1000 genomes]
rs544051	0.82[ASN][1000 genomes]
rs544285	0.82[ASN][1000 genomes]
rs553396	0.82[ASN][1000 genomes]
rs557812	0.92[ASN][1000 genomes]
rs56320266	0.86[ASN][1000 genomes]
rs572131	0.85[ASN][1000 genomes]
rs57478994	0.97[ASN][1000 genomes]
rs590296	0.93[ASN][1000 genomes]
rs591820	0.82[ASN][1000 genomes]
rs591868	0.82[ASN][1000 genomes]
rs592751	0.82[ASN][1000 genomes]
rs638462	0.83[ASN][1000 genomes]
rs638958	0.82[ASN][1000 genomes]
rs664524	0.90[ASN][1000 genomes]
rs664852	0.91[ASN][1000 genomes]
rs6674738	0.82[ASN][1000 genomes]
rs680285	0.97[ASN][1000 genomes]
rs808833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9787147	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv946092	chr1:93511551-93522478	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93508400-93513200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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