Variant report

Variant	rs6942274
Chromosome Location	chr6:33469602-33469603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33463213..33466886-chr6:33468926..33471484,3	K562	blood:
2	chr6:33463213..33467360-chr6:33468926..33472563,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11752501	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752508	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755542	0.87[EUR][1000 genomes]
rs11757035	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11757081	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757738	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11759461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627049	0.95[CEU][hapmap]
rs35131737	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857557	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4428487	0.88[ASN][1000 genomes]
rs449242	0.85[CHB][hapmap]
rs4713632	0.85[ASN][1000 genomes]
rs55659258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782090	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56002904	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56069946	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62405860	0.90[EUR][1000 genomes]
rs62405861	0.90[EUR][1000 genomes]
rs62405865	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405866	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405867	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405869	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62405887	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405891	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62405895	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62405896	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62405898	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62405899	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62405926	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6911036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs769051	0.85[ASN][1000 genomes]
rs7743060	0.85[ASN][1000 genomes]
rs7743064	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747216	0.85[ASN][1000 genomes]
rs7748370	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296092	0.82[ASN][1000 genomes]
rs9366823	0.88[ASN][1000 genomes]
rs9380362	0.88[ASN][1000 genomes]
rs9380364	0.85[ASN][1000 genomes]
rs9380366	0.82[ASN][1000 genomes]
rs9380367	0.85[ASN][1000 genomes]
rs9394153	0.85[ASN][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
rs6942274	BAK1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33453000-33474000	Weak transcription	Right Atrium	heart

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