Variant report

Variant	rs6997052
Chromosome Location	chr8:60214029-60214030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10093585	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110690	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10464899	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10481228	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2068784	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857967	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4332122	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4531041	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4579516	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5014398	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471774	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6471776	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471777	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471779	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981922	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984554	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993988	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7013677	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7013862	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018116	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818588	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819603	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835993	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];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
rs6997052	CYP7A1	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60213000-60214200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:60213000-60214200	Enhancers	Fetal Heart	heart
3	chr8:60213000-60214200	Enhancers	Fetal Lung	lung
4	chr8:60213000-60216200	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:60213200-60214200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:60213200-60214200	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:60213200-60214200	Enhancers	Primary T cells from cord blood	blood
8	chr8:60213200-60214200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:60213200-60214200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:60213200-60214200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:60213200-60214200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:60213200-60214200	Enhancers	Colon Smooth Muscle	Colon
13	chr8:60213200-60214200	Enhancers	Fetal Stomach	stomach
14	chr8:60213200-60214200	Enhancers	Rectal Smooth Muscle	rectum
15	chr8:60213200-60214200	Enhancers	HUVEC	blood vessel
16	chr8:60213200-60214200	Enhancers	Osteobl	bone
17	chr8:60213200-60214400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:60213600-60214200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:60213600-60214200	Enhancers	Stomach Smooth Muscle	stomach
20	chr8:60213600-60214400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr8:60213600-60217400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:60213800-60214200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:60213800-60215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:60213800-60217400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:60214000-60214200	Enhancers	Small Intestine	intestine
26	chr8:60214000-60214200	Enhancers	Thymus	Thymus
27	chr8:60214000-60214800	Enhancers	Fetal Thymus	thymus
28	chr8:60214000-60215600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:60214000-60216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:60214000-60216400	Enhancers	Dnd41	blood
31	chr8:60214000-60217400	Weak transcription	Fetal Brain Male	brain
32	chr8:60214000-60217600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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