Variant report

Variant	rs9298008
Chromosome Location	chr8:60187289-60187290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10088994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099943	1.00[ASN][1000 genomes]
rs10104395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104633	1.00[ASN][1000 genomes]
rs10112807	1.00[ASN][1000 genomes]
rs12547193	1.00[ASN][1000 genomes]
rs12674861	1.00[ASN][1000 genomes]
rs28409996	0.98[ASN][1000 genomes]
rs28433589	0.98[ASN][1000 genomes]
rs28502676	0.98[ASN][1000 genomes]
rs28535519	0.95[ASN][1000 genomes]
rs28670669	0.98[ASN][1000 genomes]
rs4329263	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59004396	0.90[AFR][1000 genomes]
rs6471770	0.98[ASN][1000 genomes]
rs6471771	0.98[ASN][1000 genomes]
rs6471772	0.98[ASN][1000 genomes]
rs6982691	0.89[AFR][1000 genomes]
rs7000999	1.00[ASN][1000 genomes]
rs7001107	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001175	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014814	0.89[AFR][1000 genomes]
rs7016373	0.90[AFR][1000 genomes]
rs7017099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254120	0.80[AFR][1000 genomes]
rs73254128	0.89[AFR][1000 genomes]
rs7815739	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7822365	0.98[ASN][1000 genomes]
rs9298009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298010	1.00[ASN][1000 genomes]
rs9657027	1.00[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	nsv831328	chr8:60062971-60288276	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv831329	chr8:60162977-60356031	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9298008	CYP7A1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60177600-60194800	Weak transcription	Fetal Brain Male	brain
2	chr8:60181800-60187400	Weak transcription	HMEC	breast
3	chr8:60186200-60188000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:60186200-60188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:60186400-60188200	Enhancers	NHEK	skin
6	chr8:60186800-60189000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:60187000-60187800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:60187000-60189000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:60187200-60187400	Enhancers	GM12878-XiMat	blood
10	chr8:60187200-60188400	Enhancers	Primary hematopoietic stem cells	blood

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