Variant report

Variant	rs56101164
Chromosome Location	chr1:47323008-47323009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10493125	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211370	0.91[EUR][1000 genomes]
rs11211376	0.91[EUR][1000 genomes]
rs11211377	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12733133	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2297809	0.91[EUR][1000 genomes]
rs2297810	0.91[EUR][1000 genomes]
rs35191195	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35333582	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3766194	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3766208	0.90[EUR][1000 genomes]
rs4646480	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4646481	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4646483	0.88[EUR][1000 genomes]
rs4646484	0.88[EUR][1000 genomes]
rs4646491	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56239161	0.82[ASN][1000 genomes]
rs6658037	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6700251	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7535312	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv525401	chr1:47318400-47329647	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56101164	CYP4B1	cis	Esophagus Muscularis	GTEx
rs56101164	CYP4B1	cis	lung	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47322600-47324000	Enhancers	NHEK	skin
2	chr1:47323000-47323400	Enhancers	HUVEC	blood vessel
3	chr1:47323000-47323600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:47323000-47323600	Enhancers	HMEC	breast
5	chr1:47323000-47324000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:47323000-47324000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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