Variant report

Variant	rs949789
Chromosome Location	chr5:90251093-90251094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90239303..90242044-chr5:90248874..90251643,2	K562	blood:
2	chr5:90249044..90251772-chr5:90253923..90256613,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10074525	0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514342	1.00[ASN][1000 genomes]
rs10514343	1.00[ASN][1000 genomes]
rs11738573	1.00[ASN][1000 genomes]
rs11743775	1.00[ASN][1000 genomes]
rs11744033	1.00[ASN][1000 genomes]
rs11744325	1.00[ASN][1000 genomes]
rs11949884	1.00[ASN][1000 genomes]
rs11951675	1.00[ASN][1000 genomes]
rs11952993	1.00[ASN][1000 genomes]
rs11955946	1.00[ASN][1000 genomes]
rs12186968	1.00[ASN][1000 genomes]
rs12187656	1.00[ASN][1000 genomes]
rs12187790	1.00[ASN][1000 genomes]
rs12188068	1.00[ASN][1000 genomes]
rs12188094	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188249	1.00[ASN][1000 genomes]
rs12188655	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189005	1.00[ASN][1000 genomes]
rs17571029	1.00[ASN][1000 genomes]
rs17572843	1.00[ASN][1000 genomes]
rs17633498	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976566	0.92[CEU][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438348	0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs3114653	1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34243354	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34381536	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34879738	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35060258	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35299092	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55792004	1.00[ASN][1000 genomes]
rs55941525	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56051320	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56099704	1.00[ASN][1000 genomes]
rs56106025	1.00[ASN][1000 genomes]
rs56258383	1.00[ASN][1000 genomes]
rs62374052	1.00[ASN][1000 genomes]
rs62376462	1.00[ASN][1000 genomes]
rs62376463	1.00[ASN][1000 genomes]
rs62376490	1.00[ASN][1000 genomes]
rs62376491	1.00[ASN][1000 genomes]
rs6452914	0.84[YRI][hapmap]
rs6452927	1.00[ASN][1000 genomes]
rs66509877	1.00[ASN][1000 genomes]
rs6860216	1.00[CEU][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880626	1.00[ASN][1000 genomes]
rs6886773	1.00[ASN][1000 genomes]
rs6888672	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888979	1.00[ASN][1000 genomes]
rs6889138	1.00[ASN][1000 genomes]
rs72784617	1.00[ASN][1000 genomes]
rs72784624	1.00[ASN][1000 genomes]
rs72784689	1.00[ASN][1000 genomes]
rs7711168	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721862	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723305	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729840	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv964781	chr5:90249699-90256976	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462247	chr5:90249900-90298632	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598928	chr5:90249900-90298632	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90230400-90265200	Weak transcription	K562	blood
2	chr5:90236800-90263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:90242600-90261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:90250600-90251200	Enhancers	HepG2	liver
5	chr5:90250600-90253200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:90250800-90253200	Enhancers	Colon Smooth Muscle	Colon
7	chr5:90251000-90251400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:90251000-90252200	Weak transcription	A549	lung

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