Variant report

Variant	rs12959091
Chromosome Location	chr18:13319360-13319361
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10084046	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11080642	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11080646	0.84[CHB][hapmap]
rs11662722	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1225	0.85[JPT][hapmap]
rs12959004	0.81[ASN][1000 genomes]
rs12959077	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12961452	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16940343	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16940349	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1840267	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1869496	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1869497	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2085048	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2085049	0.85[JPT][hapmap]
rs2085050	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2187501	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2187502	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276392	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2867874	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2867875	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2867876	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4570934	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4570935	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4606791	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4797761	0.85[JPT][hapmap]
rs55882226	0.85[EUR][1000 genomes]
rs6505798	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6505802	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6505803	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7226901	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7227361	0.95[CHB][hapmap]
rs7230643	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7231366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7231701	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7234501	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7234675	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7236152	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7236934	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7237181	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7237577	0.84[CHB][hapmap]
rs7241109	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7241410	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7241438	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7242024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7242140	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7242207	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7242230	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8087505	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]
rs8094197	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9303783	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs930798	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs930799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs949259	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs981621	0.85[CHB][hapmap]
rs9946524	0.85[CHB][hapmap]
rs9952682	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9953274	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9954359	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9963572	0.87[AMR][1000 genomes];0.94[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

No data

Chromatin state (count:32 , 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	chr18:13316800-13320200	Weak transcription	Small Intestine	intestine
4	chr18:13316800-13320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:13317000-13326400	Weak transcription	Brain Angular Gyrus	brain
6	chr18:13317200-13320400	Weak transcription	Fetal Thymus	thymus
7	chr18:13317200-13322000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr18:13317200-13323200	Weak transcription	Brain Germinal Matrix	brain
9	chr18:13317400-13331200	Weak transcription	Primary T cells from cord blood	blood
10	chr18:13318600-13319400	Enhancers	Aorta	Aorta
11	chr18:13318600-13319400	Enhancers	Fetal Muscle Trunk	muscle
12	chr18:13318600-13319400	Enhancers	Left Ventricle	heart
13	chr18:13318600-13319400	Enhancers	Right Atrium	heart
14	chr18:13318600-13319400	Enhancers	Right Ventricle	heart
15	chr18:13318600-13319400	Strong transcription	Thymus	Thymus
16	chr18:13318600-13319600	Enhancers	Fetal Heart	heart
17	chr18:13318600-13319600	Enhancers	Rectal Smooth Muscle	rectum
18	chr18:13318800-13319400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:13318800-13319400	Enhancers	Fetal Muscle Leg	muscle
20	chr18:13318800-13319800	Enhancers	Fetal Stomach	stomach
21	chr18:13318800-13319800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr18:13318800-13325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:13319000-13319400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:13319000-13319400	Enhancers	Stomach Smooth Muscle	stomach
25	chr18:13319000-13319600	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr18:13319000-13319600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr18:13319200-13319400	Enhancers	Brain Anterior Caudate	brain
28	chr18:13319200-13319400	Enhancers	Psoas Muscle	Psoas
29	chr18:13319200-13319400	Enhancers	Spleen	Spleen
30	chr18:13319200-13320200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:13319200-13320400	Enhancers	Liver	Liver
32	chr18:13319200-13321000	Enhancers	Adipose Nuclei	Adipose

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