Variant report

Variant	rs406498
Chromosome Location	chr2:185474770-185474771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185467104..185469455-chr2:185472399..185475002,2	K562	blood:
2	chr2:185462861..185464588-chr2:185474062..185475636,2	K562	blood:
3	chr2:185473364..185474978-chr2:185476017..185478972,2	K562	blood:

Variant related genes	Relation type
ENSG00000170396	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10206367	1.00[EUR][1000 genomes]
rs11883625	1.00[EUR][1000 genomes]
rs11891366	1.00[EUR][1000 genomes]
rs11898003	1.00[EUR][1000 genomes]
rs11898500	1.00[EUR][1000 genomes]
rs11899942	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs13384922	1.00[EUR][1000 genomes]
rs13417933	1.00[EUR][1000 genomes]
rs13431559	1.00[EUR][1000 genomes]
rs1365719	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053563	1.00[EUR][1000 genomes]
rs359883	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359890	1.00[YRI][hapmap]
rs359897	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs384591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4618009	1.00[EUR][1000 genomes]
rs56200326	1.00[EUR][1000 genomes]
rs56797758	1.00[EUR][1000 genomes]
rs57126669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59038604	1.00[EUR][1000 genomes]
rs59102345	1.00[EUR][1000 genomes]
rs59318193	1.00[EUR][1000 genomes]
rs61400218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6760206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041324	1.00[EUR][1000 genomes]
rs73041327	1.00[EUR][1000 genomes]
rs73978033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978036	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978095	1.00[EUR][1000 genomes]
rs73978098	1.00[EUR][1000 genomes]
rs73978101	1.00[EUR][1000 genomes]
rs73980304	1.00[EUR][1000 genomes]
rs73980313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980315	1.00[EUR][1000 genomes]
rs73980325	1.00[EUR][1000 genomes]
rs73980326	1.00[EUR][1000 genomes]
rs73980329	1.00[EUR][1000 genomes]
rs7579459	1.00[EUR][1000 genomes]
rs7585984	1.00[EUR][1000 genomes]
rs7601869	0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185466000-185479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:185474600-185476200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:185474600-185476400	Enhancers	Monocytes-CD14+_RO01746	blood

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