Variant report

Variant	rs12166023
Chromosome Location	chr22:28532906-28532907
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10154425	0.89[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10212036	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212040	0.87[AMR][1000 genomes]
rs10212074	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10212083	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10483140	0.84[EUR][1000 genomes]
rs10483142	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10483143	0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs118840	0.88[EUR][1000 genomes]
rs12165651	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12165797	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12166077	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs12166158	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12166389	0.86[EUR][1000 genomes]
rs12166719	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166740	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs12166912	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]
rs12166938	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12167320	0.86[EUR][1000 genomes]
rs12167735	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.86[EUR][1000 genomes]
rs12168054	0.89[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168180	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12168251	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168582	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12168652	1.00[ASN][1000 genomes]
rs12169097	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12169888	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12169936	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12170022	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12170953	0.89[CEU][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12171104	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs134194	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs134197	1.00[ASN][1000 genomes]
rs138636	0.88[EUR][1000 genomes]
rs138637	0.88[EUR][1000 genomes]
rs138639	0.88[EUR][1000 genomes]
rs138640	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs138642	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs138651	0.86[CEU][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs138653	0.89[CEU][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs138654	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138655	0.93[EUR][1000 genomes]
rs138656	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138658	0.89[CEU][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs138660	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138664	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138665	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138667	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138669	0.86[EUR][1000 genomes]
rs138670	0.88[EUR][1000 genomes]
rs138671	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs138672	0.93[EUR][1000 genomes]
rs16985763	0.86[EUR][1000 genomes]
rs16985967	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985976	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16986077	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17390800	0.86[EUR][1000 genomes]
rs17407024	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	0.89[CEU][hapmap];0.89[YRI][hapmap];0.93[EUR][1000 genomes]
rs17484337	0.89[CEU][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2143420	0.89[YRI][hapmap]
rs2745562	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28375646	0.93[EUR][1000 genomes]
rs28579300	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs470098	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs470102	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs470103	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs470104	0.93[EUR][1000 genomes]
rs55856549	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57686964	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050941	0.88[EUR][1000 genomes]
rs58823697	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103380	0.84[AFR][1000 genomes]
rs59846801	0.84[AFR][1000 genomes]
rs7286519	0.93[EUR][1000 genomes]
rs7288331	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7289984	0.86[EUR][1000 genomes]
rs7292562	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73880355	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73880374	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73880375	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73880376	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73880381	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73880382	0.86[EUR][1000 genomes]
rs73880383	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880384	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880385	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73880387	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880395	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	1.00[ASN][1000 genomes]
rs761322	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141163	0.86[EUR][1000 genomes]
rs8141173	0.86[EUR][1000 genomes]
rs9306451	0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9306452	0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620752	0.86[EUR][1000 genomes]
rs9620753	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620755	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9620757	0.86[EUR][1000 genomes]
rs9620762	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9620764	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620766	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620767	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620768	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9620769	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620778	0.81[CEU][hapmap]
rs9620779	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs9625361	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625363	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625366	0.85[EUR][1000 genomes]
rs9625367	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625370	0.86[EUR][1000 genomes]
rs9625374	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625375	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625377	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625387	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9625388	0.93[EUR][1000 genomes]
rs9625390	0.89[CEU][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625391	0.89[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625393	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625396	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625397	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625398	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625399	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625400	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625402	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625403	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625405	0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625406	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625407	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625408	0.89[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625416	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625417	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625430	0.93[AMR][1000 genomes];0.86[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	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs988893	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985213	0.86[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
2	chr22:28513200-28538000	Weak transcription	Dnd41	blood
3	chr22:28516800-28534600	Weak transcription	Fetal Brain Female	brain
4	chr22:28517800-28533000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:28525800-28533000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:28528200-28535200	Weak transcription	Fetal Heart	heart
7	chr22:28529600-28535800	Weak transcription	Ovary	ovary
8	chr22:28530000-28535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:28531200-28533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:28531800-28535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:28532600-28533000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr22:28532600-28533600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr22:28532600-28533600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr22:28532600-28533600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:28532600-28533600	ZNF genes & repeats	Fetal Lung	lung
16	chr22:28532600-28533800	ZNF genes & repeats	Aorta	Aorta
17	chr22:28532800-28533400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr22:28532800-28533400	ZNF genes & repeats	NHDF-Ad	bronchial
19	chr22:28532800-28533600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr22:28532800-28533600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr22:28532800-28533600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr22:28532800-28533600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr22:28532800-28535000	Weak transcription	Stomach Mucosa	stomach

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