Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:33447179..33448941-chr6:33457441..33459924,2	MCF-7	breast:
2	chr6:33453718..33456251-chr6:33458639..33460967,2	K562	blood:
3	chr6:33420766..33424132-chr6:33458330..33461358,3	MCF-7	breast:
4	chr20:52521312..52523443-chr6:33459372..33461546,2	MCF-7	breast:
5	chr6:33395465..33397605-chr6:33459172..33460866,2	K562	blood:

Variant related genes	Relation type
ENSG00000213588	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11752501	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11752508	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11755542	0.86[EUR][1000 genomes]
rs11757035	0.88[EUR][1000 genomes]
rs11757081	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11757738	0.91[EUR][1000 genomes]
rs11759461	0.90[EUR][1000 genomes]
rs35131737	0.91[EUR][1000 genomes]
rs3857557	0.84[EUR][1000 genomes]
rs55659258	0.90[EUR][1000 genomes]
rs55683509	0.90[EUR][1000 genomes]
rs55782090	0.88[EUR][1000 genomes]
rs56002904	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56069946	0.82[EUR][1000 genomes]
rs62405861	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405865	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62405866	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62405867	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62405869	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62405887	0.90[EUR][1000 genomes]
rs62405891	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405895	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62405896	0.90[EUR][1000 genomes]
rs62405898	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62405899	0.88[EUR][1000 genomes]
rs62405926	0.88[EUR][1000 genomes]
rs6911036	0.90[EUR][1000 genomes]
rs6942274	0.90[EUR][1000 genomes]
rs7743064	0.90[EUR][1000 genomes]
rs7743178	0.90[EUR][1000 genomes]
rs7743445	0.90[EUR][1000 genomes]
rs7748370	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62405860	BAK1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33453000-33474000	Weak transcription	Right Atrium	heart
2	chr6:33458800-33462600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:33459400-33460000	Enhancers	K562	blood

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