Variant report

Variant	rs56069946
Chromosome Location	chr6:33511136-33511137
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	chr6:33510727..33512644-chr6:33523375..33526015,2	MCF-7	breast:
2	chr6:33507165..33509178-chr6:33510190..33512427,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242014	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs11751684	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11752179	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11755542	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11757035	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11757738	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11759461	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13198446	0.84[ASN][1000 genomes]
rs17627049	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34222093	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34308820	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35131737	0.83[EUR][1000 genomes]
rs35150558	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35347341	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35381461	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3846853	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3846854	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857557	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3912039	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3912040	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3912041	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3916674	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4376348	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5000098	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55659258	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55683509	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55738531	0.88[ASN][1000 genomes]
rs55753118	0.80[ASN][1000 genomes]
rs55782090	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55836835	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55963187	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56002904	0.86[EUR][1000 genomes]
rs56043172	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56100919	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56199698	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56205713	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56206922	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56320735	0.88[ASN][1000 genomes]
rs56332659	0.82[EUR][1000 genomes]
rs62405860	0.82[EUR][1000 genomes]
rs62405861	0.82[EUR][1000 genomes]
rs62405887	0.82[EUR][1000 genomes]
rs62405891	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62405895	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62405896	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62405898	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62405899	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62405926	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62405929	0.85[ASN][1000 genomes]
rs62405941	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405942	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405943	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405945	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62405948	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405949	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405953	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405955	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62407561	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62407562	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62407564	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62407565	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62407566	0.86[EUR][1000 genomes]
rs62407567	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62407569	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6911036	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6942274	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7743064	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7743178	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7743445	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7748370	0.82[EUR][1000 genomes]
rs7751338	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7755821	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7761268	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7761464	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7765263	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7765393	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7775770	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7775914	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7776058	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776246	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9296093	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9296094	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461875	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461876	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461877	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461878	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9461879	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461880	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461881	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461882	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461884	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9461885	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461887	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9469486	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469487	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469488	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469491	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469492	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469493	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469495	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469497	0.85[ASN][1000 genomes]
rs9469498	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469499	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469500	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469501	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9469503	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469504	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469505	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469506	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469513	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][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	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
2	esv2763548	chr6:33496201-33524779	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56069946	BAK1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33501600-33512800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:33510600-33512000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:33511000-33511200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:33511000-33511400	Enhancers	HepG2	liver

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