Variant report

No.	Distal block	Cell Line	Cell type
1	2:234683624-234705119..2:234843685-234852750	Hela-S3	cervix:
2	chr2:234846587..234849218-chr2:234859033..234861096,2	MCF-7	breast:
3	2:234543708-234558325..2:234843685-234852750	Hela-S3	cervix:

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

rs_ID	r²[population]
rs12470426	0.97[ASN][1000 genomes]
rs12472151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473889	0.97[ASN][1000 genomes]
rs12992084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13004520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024825	0.91[EUR][1000 genomes]
rs17863841	0.95[ASN][1000 genomes]
rs17863842	0.97[ASN][1000 genomes]
rs17863848	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17864749	0.97[EUR][1000 genomes]
rs17868384	0.97[ASN][1000 genomes]
rs17868387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28946912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28948671	0.90[EUR][1000 genomes]
rs56123979	0.97[EUR][1000 genomes]
rs66567403	0.90[EUR][1000 genomes]
rs67646620	0.97[ASN][1000 genomes]
rs7562952	0.95[ASN][1000 genomes]
rs7562971	0.95[ASN][1000 genomes]

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876024	chr2:234842650-234856421	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234845400-234851400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:234848000-234849200	Weak transcription	Spleen	Spleen
3	chr2:234848000-234851600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:234848000-234852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:234849000-234849200	Bivalent Enhancer	Primary B cells from peripheral blood	blood

Quick Search: