Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45336563..45338424-chr12:45340632..45342622,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs268024	0.84[YRI][hapmap]
rs268038	0.84[YRI][hapmap]
rs372281	0.94[AFR][1000 genomes]
rs374038	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs375660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376052	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376283	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs377352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs381841	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs383227	1.00[AMR][1000 genomes]
rs385584	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs389144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392849	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs399567	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs402960	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs421642	0.84[YRI][hapmap]
rs436453	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs445380	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447309	0.88[AFR][1000 genomes];1.00[AMR][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	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr12:45336400-45337600	Enhancers	Fetal Intestine Large	intestine
2	chr12:45337000-45342400	Weak transcription	HepG2	liver

Quick Search: