Variant report

Variant	rs10088693
Chromosome Location	chr8:111906048-111906049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:111905363..111907255-chr8:112045592..112048412,2	K562	blood:
2	chr8:111905656..111907856-chr8:111909688..111913737,4	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10087692	0.82[EUR][1000 genomes]
rs10095358	0.82[ASN][1000 genomes]
rs10100737	0.82[ASN][1000 genomes]
rs10105281	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10105924	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10107334	0.83[AMR][1000 genomes]
rs10111631	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10111772	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs10113434	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808439	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10955547	0.87[ASN][1000 genomes]
rs11774323	0.86[ASN][1000 genomes]
rs11781088	0.82[EUR][1000 genomes]
rs11994590	0.87[EUR][1000 genomes]
rs12541889	0.93[ASN][1000 genomes]
rs12545941	0.91[ASN][1000 genomes]
rs12548358	0.87[ASN][1000 genomes]
rs12681712	0.87[ASN][1000 genomes]
rs13253221	0.81[ASN][1000 genomes]
rs13258383	0.81[EUR][1000 genomes]
rs13261074	0.87[ASN][1000 genomes]
rs13269197	0.93[ASN][1000 genomes]
rs1352549	0.81[ASN][1000 genomes]
rs1387410	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1489356	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1489368	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1489372	0.88[ASN][1000 genomes]
rs1602042	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16881248	0.87[ASN][1000 genomes]
rs16881360	0.93[ASN][1000 genomes]
rs1826046	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2087421	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2130187	0.86[ASN][1000 genomes]
rs2171707	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351325	0.81[ASN][1000 genomes]
rs28367343	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28452907	0.81[EUR][1000 genomes]
rs28653273	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35609046	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs36055723	0.81[EUR][1000 genomes]
rs4289849	0.92[ASN][1000 genomes]
rs4430061	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4573245	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs4876328	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4876347	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61224411	0.91[ASN][1000 genomes]
rs6469327	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469330	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469331	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6985111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991190	0.81[ASN][1000 genomes]
rs7015288	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72677153	0.97[ASN][1000 genomes]
rs7819770	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs923429	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs923433	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs931410	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958443	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1032766	chr8:111779352-111995438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2754849	chr8:111817591-112088992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1033792	chr8:111824536-111906864	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3418448	chr8:111834718-112112905	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv891295	chr8:111852200-112163801	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3372961	chr8:111883825-111909491	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv20619	chr8:111891496-111908496	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10088693	SYBU	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111904600-111906600	Enhancers	Adipose Nuclei	Adipose
2	chr8:111905200-111906800	Active TSS	Brain Cingulate Gyrus	brain
3	chr8:111905400-111906600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:111905400-111907000	Active TSS	Brain Anterior Caudate	brain
5	chr8:111905400-111907000	Active TSS	Brain Substantia Nigra	brain
6	chr8:111905400-111907200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr8:111905600-111906400	Enhancers	Fetal Stomach	stomach
8	chr8:111905600-111906400	Flanking Active TSS	HSMMtube	muscle
9	chr8:111905600-111906600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:111905600-111907000	Active TSS	Brain Angular Gyrus	brain
11	chr8:111905600-111907000	Active TSS	Brain Hippocampus Middle	brain
12	chr8:111905600-111907000	Enhancers	Ovary	ovary
13	chr8:111905600-111907200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:111905800-111906200	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr8:111905800-111906400	Enhancers	NH-A	brain
16	chr8:111905800-111906600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:111905800-111907200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:111905800-111907200	Enhancers	HMEC	breast
19	chr8:111905800-111907200	Flanking Active TSS	HSMM	muscle
20	chr8:111906000-111906200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:111906000-111906600	Enhancers	A549	lung
22	chr8:111906000-111906800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:111906000-111906800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:111906000-111906800	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr8:111906000-111907200	Flanking Active TSS	NHLF	lung

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