Variant report

Variant	rs9650212
Chromosome Location	chr8:65668770-65668771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12155861	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216788	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13248549	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248755	1.00[CEU][hapmap]
rs13255280	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13255521	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258738	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259721	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261981	0.89[CEU][hapmap];0.84[AMR][1000 genomes]
rs13263496	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264230	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265049	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266877	0.80[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes]
rs13268326	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13277887	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs13278868	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280706	0.80[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs13280968	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17293712	0.89[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes]
rs17358602	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes]
rs2356984	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2356990	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2356993	0.81[AMR][1000 genomes]
rs34122018	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34183793	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34204608	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34225190	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34341913	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34618827	0.81[AMR][1000 genomes]
rs34885537	0.81[AMR][1000 genomes]
rs35107809	0.81[AMR][1000 genomes]
rs35491729	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35504769	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35942841	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36016124	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36053206	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36117382	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134341	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4363236	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521082	0.81[AMR][1000 genomes]
rs62521147	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521150	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521156	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521157	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521159	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522278	0.81[EUR][1000 genomes]
rs66985061	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980478	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981409	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656485	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656489	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650211	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9650212	CYP7B1	cis	parietal	SCAN
rs9650212	ZRSR2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65663600-65669000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:65663600-65669600	Weak transcription	Ovary	ovary
3	chr8:65664000-65669400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:65666200-65669800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:65666600-65669600	Weak transcription	Esophagus	oesophagus
6	chr8:65666600-65679400	Weak transcription	Pancreas	Pancrea
7	chr8:65666800-65670200	Weak transcription	Spleen	Spleen
8	chr8:65667400-65669000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:65667600-65671800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:65667800-65669600	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:65667800-65669600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:65667800-65669600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:65668400-65668800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:65668400-65668800	Enhancers	Osteobl	bone
15	chr8:65668400-65669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:65668400-65669200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:65668400-65669200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr8:65668400-65670400	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:65668600-65668800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:65668600-65668800	Enhancers	A549	lung
21	chr8:65668600-65668800	Enhancers	NHDF-Ad	bronchial
22	chr8:65668600-65669000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:65668600-65669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:65668600-65669000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:65668600-65669000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:65668600-65669600	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:65668600-65670200	Enhancers	Rectal Smooth Muscle	rectum
28	chr8:65668600-65670400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:65668600-65670400	Enhancers	NHEK	skin

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