Variant report

Variant	rs10481228
Chromosome Location	chr8:60218207-60218208
allele	C/T
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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10110690	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10464899	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068784	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3857967	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332122	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531041	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4579516	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5014398	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471774	0.92[EUR][1000 genomes]
rs6471776	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471779	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6981922	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984554	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6993988	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997052	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013677	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013862	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7018116	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7818588	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7819603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835993	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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
rs10481228	CYP7A1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60214200-60219000	Weak transcription	HUVEC	blood vessel
2	chr8:60214200-60219200	Weak transcription	Small Intestine	intestine
3	chr8:60214400-60219400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:60214800-60219000	Weak transcription	Fetal Stomach	stomach
5	chr8:60217400-60218400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:60217400-60218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:60217400-60219400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:60217400-60219600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:60217400-60220800	Enhancers	Adipose Nuclei	Adipose
10	chr8:60217600-60218400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:60217600-60218400	Enhancers	Dnd41	blood
12	chr8:60217600-60219200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:60217600-60219200	Active TSS	Stomach Smooth Muscle	stomach
14	chr8:60217600-60219600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:60217800-60218400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:60217800-60219400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:60217800-60221000	Enhancers	Fetal Lung	lung
18	chr8:60218000-60218400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr8:60218000-60218400	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr8:60218000-60218600	Active TSS	Colon Smooth Muscle	Colon
21	chr8:60218000-60219000	Weak transcription	Fetal Kidney	kidney
22	chr8:60218000-60219200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:60218000-60219200	Enhancers	Fetal Brain Female	brain
24	chr8:60218000-60219600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:60218200-60218800	Enhancers	Fetal Brain Male	brain
26	chr8:60218200-60219400	Enhancers	Brain Germinal Matrix	brain
27	chr8:60218200-60219400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr8:60218200-60219800	Enhancers	Fetal Heart	heart
29	chr8:60218200-60220400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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