Variant report

Variant	rs12169888
Chromosome Location	chr22:28442632-28442633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10154425	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10212007	0.84[EUR][1000 genomes]
rs10212036	0.86[EUR][1000 genomes]
rs10483140	0.91[EUR][1000 genomes]
rs10483142	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483143	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs118840	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165651	0.93[EUR][1000 genomes]
rs12165797	0.93[EUR][1000 genomes]
rs12166023	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12166077	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166158	0.95[EUR][1000 genomes]
rs12166164	0.86[EUR][1000 genomes]
rs12166256	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166389	0.93[EUR][1000 genomes]
rs12166719	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166740	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166912	0.95[EUR][1000 genomes]
rs12166938	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167320	0.93[EUR][1000 genomes]
rs12167829	0.93[EUR][1000 genomes]
rs12168054	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12168180	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168251	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168582	0.91[EUR][1000 genomes]
rs12169097	0.93[EUR][1000 genomes]
rs12169936	0.93[EUR][1000 genomes]
rs12170022	0.95[EUR][1000 genomes]
rs12170558	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171104	0.91[EUR][1000 genomes]
rs138636	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138637	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138639	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138640	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138642	0.95[EUR][1000 genomes]
rs138651	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138653	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138654	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138655	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138656	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs138658	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138660	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138664	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138665	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138667	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138669	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138670	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs138671	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138672	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985763	0.93[EUR][1000 genomes]
rs16985967	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985976	0.86[EUR][1000 genomes]
rs16986037	0.95[EUR][1000 genomes]
rs16986077	0.86[EUR][1000 genomes]
rs16987005	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17390800	0.93[EUR][1000 genomes]
rs17407024	0.91[EUR][1000 genomes]
rs17483887	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745562	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579300	0.82[EUR][1000 genomes]
rs4036493	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs470098	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470102	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470103	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470104	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856549	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56233401	0.95[EUR][1000 genomes]
rs56393679	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686964	0.95[EUR][1000 genomes]
rs58050941	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.95[EUR][1000 genomes]
rs7286519	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288331	0.93[EUR][1000 genomes]
rs7289984	0.93[EUR][1000 genomes]
rs7292562	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880355	0.91[EUR][1000 genomes]
rs73880374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880375	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880381	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880382	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880383	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880384	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880385	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880387	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880393	0.93[EUR][1000 genomes]
rs73880395	0.86[EUR][1000 genomes]
rs73882704	0.82[EUR][1000 genomes]
rs73882705	0.82[EUR][1000 genomes]
rs761322	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs761323	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8141163	0.93[EUR][1000 genomes]
rs8141173	0.93[EUR][1000 genomes]
rs9306451	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306452	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9620752	0.93[EUR][1000 genomes]
rs9620753	0.93[EUR][1000 genomes]
rs9620755	0.90[EUR][1000 genomes]
rs9620757	0.93[EUR][1000 genomes]
rs9620762	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620764	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620766	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620767	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620768	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620769	0.93[EUR][1000 genomes]
rs9620770	0.86[EUR][1000 genomes]
rs9620771	0.93[EUR][1000 genomes]
rs9625361	0.91[EUR][1000 genomes]
rs9625363	0.93[EUR][1000 genomes]
rs9625366	0.91[EUR][1000 genomes]
rs9625367	0.93[EUR][1000 genomes]
rs9625370	0.93[EUR][1000 genomes]
rs9625374	0.93[EUR][1000 genomes]
rs9625375	0.93[EUR][1000 genomes]
rs9625377	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625388	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625393	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625395	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625396	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625397	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625398	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625399	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625400	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625402	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625403	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625405	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9625406	0.85[EUR][1000 genomes]
rs9625407	0.84[EUR][1000 genomes]
rs9625408	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9625409	0.93[EUR][1000 genomes]
rs9625410	0.91[EUR][1000 genomes]
rs9625413	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625415	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625416	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625417	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625418	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625421	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625425	0.82[EUR][1000 genomes]
rs9625427	0.84[EUR][1000 genomes]
rs9625430	0.86[EUR][1000 genomes]
rs9712839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988893	0.82[EUR][1000 genomes]
rs9985213	0.93[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28431200-28449600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:28431200-28459600	Weak transcription	Aorta	Aorta
3	chr22:28431600-28442800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:28431600-28443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:28431600-28443200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:28431600-28447600	Weak transcription	Fetal Brain Female	brain
7	chr22:28431800-28444200	Weak transcription	Thymus	Thymus
8	chr22:28432000-28447600	Weak transcription	Fetal Brain Male	brain
9	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
10	chr22:28432200-28443000	Weak transcription	Fetal Intestine Small	intestine
11	chr22:28439600-28449800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:28439800-28442800	Weak transcription	Right Atrium	heart
13	chr22:28439800-28443000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:28439800-28443000	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:28439800-28443000	Weak transcription	Fetal Stomach	stomach
16	chr22:28439800-28443000	Weak transcription	Lung	lung
17	chr22:28439800-28444400	Weak transcription	Fetal Lung	lung
18	chr22:28439800-28444600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:28439800-28450000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:28440000-28443200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:28440000-28443200	Weak transcription	Left Ventricle	heart
22	chr22:28440000-28443400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:28440000-28443600	Weak transcription	Right Ventricle	heart
24	chr22:28440000-28447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:28440000-28450000	Weak transcription	Ovary	ovary
26	chr22:28440200-28449200	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:28440200-28449800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr22:28440200-28450000	Weak transcription	NHDF-Ad	bronchial
29	chr22:28440400-28444800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:28440400-28449400	Weak transcription	NHLF	lung
31	chr22:28440800-28443600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:28441000-28452200	Weak transcription	Fetal Intestine Large	intestine
33	chr22:28441400-28448200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:28441800-28443000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr22:28442200-28443000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr22:28442200-28443800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28442200-28443800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:28442200-28444400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr22:28442200-28446400	Strong transcription	Dnd41	blood
40	chr22:28442400-28443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:28442400-28444200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:28442600-28444000	Genic enhancers	Adipose Nuclei	Adipose

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