Variant report

Variant	rs12166164
Chromosome Location	chr22:28492990-28492991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28487019..28489734-chr22:28491482..28493153,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10154425	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10212007	0.81[EUR][1000 genomes]
rs10212036	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10483142	0.82[EUR][1000 genomes]
rs10483143	0.82[EUR][1000 genomes]
rs118840	0.81[EUR][1000 genomes]
rs12166023	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12166077	0.86[EUR][1000 genomes]
rs12166158	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12166256	0.91[EUR][1000 genomes]
rs12166719	0.82[EUR][1000 genomes]
rs12166740	0.84[EUR][1000 genomes]
rs12166912	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12166938	0.82[EUR][1000 genomes]
rs12168054	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168180	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168251	0.82[EUR][1000 genomes]
rs12169888	0.86[EUR][1000 genomes]
rs12170022	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12170558	0.84[EUR][1000 genomes]
rs12170953	0.86[EUR][1000 genomes]
rs138636	0.81[EUR][1000 genomes]
rs138637	0.81[EUR][1000 genomes]
rs138639	0.81[EUR][1000 genomes]
rs138640	0.81[EUR][1000 genomes]
rs138642	0.81[EUR][1000 genomes]
rs138651	0.86[EUR][1000 genomes]
rs138653	0.81[EUR][1000 genomes]
rs138654	0.86[EUR][1000 genomes]
rs138655	0.86[EUR][1000 genomes]
rs138656	0.86[EUR][1000 genomes]
rs138658	0.86[EUR][1000 genomes]
rs138660	0.86[EUR][1000 genomes]
rs138664	0.86[EUR][1000 genomes]
rs138665	0.86[EUR][1000 genomes]
rs138667	0.86[EUR][1000 genomes]
rs138670	0.81[EUR][1000 genomes]
rs138671	0.86[EUR][1000 genomes]
rs138672	0.86[EUR][1000 genomes]
rs16985967	0.82[EUR][1000 genomes]
rs16985976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16986037	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16986077	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16987005	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17407024	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17483887	0.86[EUR][1000 genomes]
rs17484337	0.86[EUR][1000 genomes]
rs2745562	0.84[EUR][1000 genomes]
rs28375646	0.86[EUR][1000 genomes]
rs4036493	0.84[EUR][1000 genomes]
rs470098	0.81[EUR][1000 genomes]
rs470102	0.86[EUR][1000 genomes]
rs470103	0.86[EUR][1000 genomes]
rs470104	0.86[EUR][1000 genomes]
rs55856549	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56233401	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56393679	0.82[EUR][1000 genomes]
rs57686964	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58050941	0.81[EUR][1000 genomes]
rs58823697	0.88[EUR][1000 genomes]
rs7286519	0.86[EUR][1000 genomes]
rs73880374	0.86[EUR][1000 genomes]
rs73880375	0.86[EUR][1000 genomes]
rs73880376	0.86[EUR][1000 genomes]
rs73880381	0.86[EUR][1000 genomes]
rs73880383	0.82[EUR][1000 genomes]
rs73880384	0.82[EUR][1000 genomes]
rs73880385	0.81[EUR][1000 genomes]
rs73880387	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880393	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880395	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs761322	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs761323	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9306451	0.84[EUR][1000 genomes]
rs9306452	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9620762	0.86[EUR][1000 genomes]
rs9620764	0.86[EUR][1000 genomes]
rs9620766	0.81[EUR][1000 genomes]
rs9620767	0.81[EUR][1000 genomes]
rs9620768	0.89[EUR][1000 genomes]
rs9620769	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620770	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9620771	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625387	0.86[EUR][1000 genomes]
rs9625388	0.86[EUR][1000 genomes]
rs9625390	0.86[EUR][1000 genomes]
rs9625391	0.84[EUR][1000 genomes]
rs9625393	0.82[EUR][1000 genomes]
rs9625395	0.88[EUR][1000 genomes]
rs9625396	0.84[EUR][1000 genomes]
rs9625397	0.84[EUR][1000 genomes]
rs9625398	0.84[EUR][1000 genomes]
rs9625399	0.84[EUR][1000 genomes]
rs9625400	0.84[EUR][1000 genomes]
rs9625402	0.84[EUR][1000 genomes]
rs9625403	0.82[EUR][1000 genomes]
rs9625405	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625406	0.82[EUR][1000 genomes]
rs9625407	0.81[EUR][1000 genomes]
rs9625408	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625409	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625410	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625413	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625415	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625416	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625417	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625418	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625421	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9712839	0.82[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
2	chr22:28472000-28494800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:28472000-28499000	Weak transcription	NHDF-Ad	bronchial
4	chr22:28472200-28498600	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:28472400-28494200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr22:28472800-28495400	Weak transcription	Pancreas	Pancrea
7	chr22:28472800-28501000	Weak transcription	Gastric	stomach
8	chr22:28480200-28493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:28480400-28494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:28483600-28500000	Weak transcription	Spleen	Spleen
11	chr22:28485600-28494200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:28485600-28494600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:28485800-28501400	Strong transcription	Dnd41	blood
14	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
15	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:28486200-28504400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28486200-28504800	Weak transcription	Osteobl	bone
18	chr22:28486400-28494000	Weak transcription	Right Ventricle	heart
19	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
20	chr22:28486600-28498400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:28486600-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:28486600-28499400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr22:28486800-28494800	Weak transcription	Brain Angular Gyrus	brain
24	chr22:28486800-28498600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:28487000-28496800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:28487400-28495200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:28487400-28497000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:28487400-28501200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr22:28487600-28504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr22:28487800-28505000	Weak transcription	Colonic Mucosa	Colon
32	chr22:28488200-28499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:28488800-28493600	Weak transcription	Brain Anterior Caudate	brain
34	chr22:28488800-28493600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr22:28488800-28501000	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:28489000-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:28489600-28500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
40	chr22:28490000-28494000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:28490200-28496600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:28490400-28494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:28490400-28494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:28490400-28494200	Weak transcription	Primary T cells from cord blood	blood
45	chr22:28490400-28498600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:28490400-28499200	Strong transcription	Fetal Muscle Leg	muscle
47	chr22:28490400-28499400	Weak transcription	HSMM	muscle
48	chr22:28490400-28499400	Weak transcription	HSMMtube	muscle
49	chr22:28490600-28494200	Weak transcription	Fetal Kidney	kidney
50	chr22:28490600-28494600	Weak transcription	Rectal Mucosa Donor 31	rectum

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