Variant report

Variant	rs62405926
Chromosome Location	chr6:33501648-33501649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11751684	0.82[EUR][1000 genomes]
rs11752501	0.85[EUR][1000 genomes]
rs11752508	0.85[EUR][1000 genomes]
rs11755542	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11757035	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11757081	0.85[EUR][1000 genomes]
rs11757738	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11759461	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34222093	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34308820	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35131737	0.89[EUR][1000 genomes]
rs35150558	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35347341	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35381461	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3857557	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3912039	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3912040	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3912041	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3916674	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4376348	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5000098	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55659258	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55683509	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55782090	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55963187	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56002904	0.93[EUR][1000 genomes]
rs56043172	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56069946	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56100919	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56205713	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56206922	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62405860	0.88[EUR][1000 genomes]
rs62405861	0.89[EUR][1000 genomes]
rs62405865	0.85[EUR][1000 genomes]
rs62405866	0.85[EUR][1000 genomes]
rs62405867	0.85[EUR][1000 genomes]
rs62405869	0.83[EUR][1000 genomes]
rs62405887	0.89[EUR][1000 genomes]
rs62405891	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62405895	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62405896	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62405898	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62405899	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62405924	0.84[ASN][1000 genomes]
rs62405941	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62405942	0.84[ASN][1000 genomes]
rs62405943	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62405948	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62405949	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62405953	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62407562	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62407567	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6911036	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6942274	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7743064	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7743178	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7743445	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7748370	0.89[EUR][1000 genomes]
rs7751338	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7755821	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7761268	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7761464	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7765263	0.84[ASN][1000 genomes]
rs7765393	0.84[ASN][1000 genomes]
rs7775770	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7775914	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7776058	0.81[ASN][1000 genomes]
rs7776246	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9296094	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461875	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461876	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461877	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461879	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461880	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461881	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461882	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461885	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469486	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469487	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469488	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469491	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469492	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469498	0.84[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	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
4	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
rs62405926	BAK1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33500600-33502000	Enhancers	Fetal Thymus	thymus
2	chr6:33501000-33501800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr6:33501000-33501800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr6:33501000-33501800	Flanking Active TSS	Dnd41	blood
5	chr6:33501000-33501800	Enhancers	HepG2	liver
6	chr6:33501200-33501800	Flanking Active TSS	Thymus	Thymus
7	chr6:33501600-33501800	Active TSS	Primary T cells from cord blood	blood
8	chr6:33501600-33501800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr6:33501600-33501800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:33501600-33501800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr6:33501600-33502400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:33501600-33502400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:33501600-33502400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:33501600-33502400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr6:33501600-33502800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr6:33501600-33512800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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