Variant report

Variant	rs62405898
Chromosome Location	chr6:33474528-33474529
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	chr6:33394909..33396953-chr6:33473800..33476253,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11752501	0.89[EUR][1000 genomes]
rs11752508	0.89[EUR][1000 genomes]
rs11755542	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11757035	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11757081	0.89[EUR][1000 genomes]
rs11757738	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11759461	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35131737	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3857557	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55659258	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55683509	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55782090	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56002904	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56069946	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62405860	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62405861	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62405865	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62405866	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62405867	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62405869	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62405887	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62405891	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62405895	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62405896	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62405899	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62405926	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62407562	0.83[EUR][1000 genomes]
rs6911036	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6942274	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7743064	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7743178	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7743445	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7748370	0.90[AMR][1000 genomes];0.93[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	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
3	nsv521506	chr6:33468151-33480738	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv524010	chr6:33468151-33505981	Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62405898	BAK1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33473600-33474600	Enhancers	Fetal Heart	heart
2	chr6:33473800-33476800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:33474200-33476800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:33474200-33476800	Weak transcription	Adipose Nuclei	Adipose
5	chr6:33474200-33477000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:33474400-33476800	Weak transcription	Right Atrium	heart
7	chr6:33474400-33476800	Weak transcription	K562	blood
8	chr6:33474400-33477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:33474400-33481200	Weak transcription	Fetal Intestine Small	intestine

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