Variant report

Variant	rs12166912
Chromosome Location	chr22:28514922-28514923
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10154425	0.89[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10212036	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212040	0.90[AMR][1000 genomes]
rs10212074	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10212083	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10483140	0.86[EUR][1000 genomes]
rs10483142	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10483143	0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs118840	0.89[EUR][1000 genomes]
rs12165651	0.88[EUR][1000 genomes]
rs12165797	0.88[EUR][1000 genomes]
rs12166023	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166077	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs12166158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12166389	0.88[EUR][1000 genomes]
rs12166719	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166740	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12166938	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12167320	0.88[EUR][1000 genomes]
rs12167735	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.88[EUR][1000 genomes]
rs12168054	0.89[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168180	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12168251	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12168582	0.86[EUR][1000 genomes]
rs12168652	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169097	0.88[EUR][1000 genomes]
rs12169888	0.95[EUR][1000 genomes]
rs12169936	0.88[EUR][1000 genomes]
rs12170022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170953	0.89[CEU][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs12171104	0.86[EUR][1000 genomes]
rs134194	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs134197	1.00[ASN][1000 genomes]
rs138636	0.89[EUR][1000 genomes]
rs138637	0.89[EUR][1000 genomes]
rs138639	0.89[EUR][1000 genomes]
rs138640	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs138642	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs138651	0.86[CEU][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs138653	0.89[CEU][hapmap];0.80[YRI][hapmap];0.90[EUR][1000 genomes]
rs138654	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs138655	0.95[EUR][1000 genomes]
rs138656	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs138658	0.89[CEU][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs138660	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs138664	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs138665	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs138667	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs138669	0.87[EUR][1000 genomes]
rs138670	0.89[EUR][1000 genomes]
rs138671	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs138672	0.95[EUR][1000 genomes]
rs16985763	0.88[EUR][1000 genomes]
rs16985967	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16985976	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16986077	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17390800	0.88[EUR][1000 genomes]
rs17407024	0.88[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	0.89[CEU][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes]
rs17484337	0.89[CEU][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs2143420	0.89[YRI][hapmap]
rs2745562	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28375646	0.95[EUR][1000 genomes]
rs28579300	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs470098	0.89[EUR][1000 genomes]
rs470102	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs470103	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs470104	0.95[EUR][1000 genomes]
rs55856549	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57686964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050941	0.89[EUR][1000 genomes]
rs58823697	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286519	0.95[EUR][1000 genomes]
rs7288331	0.88[EUR][1000 genomes]
rs7289984	0.88[EUR][1000 genomes]
rs7292562	0.88[EUR][1000 genomes]
rs73880355	0.86[EUR][1000 genomes]
rs73880374	0.95[EUR][1000 genomes]
rs73880375	0.95[EUR][1000 genomes]
rs73880376	0.95[EUR][1000 genomes]
rs73880381	0.95[EUR][1000 genomes]
rs73880382	0.87[EUR][1000 genomes]
rs73880383	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73880384	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73880385	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73880387	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880395	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761322	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141163	0.88[EUR][1000 genomes]
rs8141173	0.88[EUR][1000 genomes]
rs9306451	0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306452	0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620752	0.88[EUR][1000 genomes]
rs9620753	0.88[EUR][1000 genomes]
rs9620755	0.85[EUR][1000 genomes]
rs9620757	0.88[EUR][1000 genomes]
rs9620762	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9620764	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9620766	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620767	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620768	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620769	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620778	0.81[CEU][hapmap]
rs9620779	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs9625361	0.86[EUR][1000 genomes]
rs9625363	0.88[EUR][1000 genomes]
rs9625366	0.86[EUR][1000 genomes]
rs9625367	0.88[EUR][1000 genomes]
rs9625370	0.88[EUR][1000 genomes]
rs9625374	0.88[EUR][1000 genomes]
rs9625375	0.88[EUR][1000 genomes]
rs9625377	0.88[EUR][1000 genomes]
rs9625387	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9625388	0.95[EUR][1000 genomes]
rs9625390	0.89[CEU][hapmap];0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs9625391	0.89[CEU][hapmap];0.89[YRI][hapmap];0.93[EUR][1000 genomes]
rs9625393	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625396	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625397	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625398	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625399	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625400	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625402	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625403	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625405	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625406	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625407	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625408	0.89[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625416	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625417	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625418	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625430	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625433	1.00[ASN][1000 genomes]
rs9625437	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs9625441	1.00[ASN][1000 genomes]
rs9712839	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs988893	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985213	0.88[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
6	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:28508800-28516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:28509000-28517200	Weak transcription	Stomach Mucosa	stomach
9	chr22:28509400-28516400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:28509400-28516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:28510000-28515200	Weak transcription	Fetal Brain Male	brain
12	chr22:28512000-28516000	Enhancers	Fetal Heart	heart
13	chr22:28512800-28516600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:28513000-28515000	Weak transcription	Psoas Muscle	Psoas
15	chr22:28513000-28516400	Weak transcription	Aorta	Aorta
16	chr22:28513000-28516400	Weak transcription	Fetal Lung	lung
17	chr22:28513000-28519000	Weak transcription	Ovary	ovary
18	chr22:28513200-28516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:28513200-28516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:28513200-28516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:28513200-28517800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:28513200-28521400	Weak transcription	Fetal Stomach	stomach
23	chr22:28513200-28527400	Weak transcription	Left Ventricle	heart
24	chr22:28513200-28538000	Weak transcription	Dnd41	blood
25	chr22:28513400-28516400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:28513400-28516400	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:28513600-28515000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:28513600-28516200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:28513600-28516200	Weak transcription	Osteobl	bone
30	chr22:28513600-28516400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:28513600-28516400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:28513600-28516400	Weak transcription	HSMM	muscle
33	chr22:28513600-28516400	Weak transcription	NH-A	brain
34	chr22:28513600-28516400	Weak transcription	NHDF-Ad	bronchial
35	chr22:28513600-28516600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:28513800-28515000	Weak transcription	HSMMtube	muscle
37	chr22:28514000-28520000	Weak transcription	NHEK	skin
38	chr22:28514200-28516600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:28514400-28515200	Enhancers	Adipose Nuclei	Adipose
40	chr22:28514600-28515600	Enhancers	Rectal Smooth Muscle	rectum
41	chr22:28514600-28515600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr22:28514600-28515600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr22:28514800-28515000	Enhancers	Fetal Brain Female	brain
44	chr22:28514800-28515200	Weak transcription	Brain Germinal Matrix	brain
45	chr22:28514800-28515600	Enhancers	Colon Smooth Muscle	Colon

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