Variant report

Variant	rs8087505
Chromosome Location	chr18:13320303-13320304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10084046	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11080642	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11080646	0.86[CHB][hapmap];0.89[CHD][hapmap];0.82[MEX][hapmap]
rs11662722	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1225	0.87[JPT][hapmap]
rs12456874	0.90[CEU][hapmap];0.80[TSI][hapmap]
rs12959004	0.83[ASN][1000 genomes]
rs12959077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12959091	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12961452	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16940343	0.91[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap]
rs16940349	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1840267	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1869496	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1869497	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1893980	0.83[CEU][hapmap]
rs2085048	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2085049	0.87[JPT][hapmap]
rs2085050	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2187501	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2187502	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276392	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2867874	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2867875	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2867876	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4570934	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4570935	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4606791	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4797761	0.87[JPT][hapmap]
rs55882226	0.86[EUR][1000 genomes]
rs6505798	0.86[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6505802	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6505803	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6505807	0.81[AFR][1000 genomes]
rs7226901	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7227361	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs7230643	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7231366	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs7231701	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7234501	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7234675	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7236152	0.84[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7236934	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7237181	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7237577	0.94[ASW][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.82[AFR][1000 genomes]
rs7241109	1.00[CEU][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7241410	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7241438	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7242024	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7242140	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7242207	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7242230	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8094197	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897035	0.90[CEU][hapmap]
rs9303783	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930797	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs930798	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930799	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949259	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs981621	0.86[CHB][hapmap];0.84[AFR][1000 genomes]
rs9946524	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs9948620	0.82[MEX][hapmap]
rs9952682	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9952836	0.90[CEU][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs9953274	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9954359	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9957621	0.95[CEU][hapmap]
rs9960460	0.81[LWK][hapmap];0.86[YRI][hapmap]
rs9960893	0.80[ASN][1000 genomes]
rs9963572	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8087505	C18orf19	cis	cerebellum	SCAN
rs8087505	TUBB6	cis	cerebellum	SCAN
rs8087505	AFG3L2	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13314800-13325000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr18:13316600-13322600	Weak transcription	Dnd41	blood
3	chr18:13316800-13320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:13317000-13326400	Weak transcription	Brain Angular Gyrus	brain
5	chr18:13317200-13320400	Weak transcription	Fetal Thymus	thymus
6	chr18:13317200-13322000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr18:13317200-13323200	Weak transcription	Brain Germinal Matrix	brain
8	chr18:13317400-13331200	Weak transcription	Primary T cells from cord blood	blood
9	chr18:13318800-13325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:13319200-13320400	Enhancers	Liver	Liver
11	chr18:13319200-13321000	Enhancers	Adipose Nuclei	Adipose
12	chr18:13319400-13320400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:13319400-13320400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:13319400-13320400	Weak transcription	Brain Anterior Caudate	brain
15	chr18:13319400-13320400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr18:13319400-13320400	Weak transcription	Right Atrium	heart
17	chr18:13319400-13320400	Weak transcription	Thymus	Thymus
18	chr18:13319400-13320600	Weak transcription	Left Ventricle	heart
19	chr18:13319400-13320600	Weak transcription	Right Ventricle	heart
20	chr18:13319400-13321200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:13319400-13327200	Weak transcription	Fetal Muscle Leg	muscle
22	chr18:13319600-13320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr18:13319600-13320600	Weak transcription	Fetal Heart	heart
24	chr18:13319600-13320800	Enhancers	Colon Smooth Muscle	Colon
25	chr18:13319600-13321400	Enhancers	Fetal Lung	lung
26	chr18:13319800-13327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:13320000-13321000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr18:13320200-13320400	Enhancers	Small Intestine	intestine
29	chr18:13320200-13320400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr18:13320200-13320600	Enhancers	Aorta	Aorta
31	chr18:13320200-13320800	Enhancers	Skeletal Muscle Female	skeletal muscle

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