Variant report

Variant	rs12169936
Chromosome Location	chr22:28355449-28355450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10154425	0.89[CEU][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10483140	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483142	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10483143	0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs118840	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12165651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166023	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12166077	1.00[ASW][hapmap];0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs12166158	0.88[EUR][1000 genomes]
rs12166256	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12166389	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166719	0.80[AMR][1000 genomes]
rs12166740	0.89[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs12166912	0.88[EUR][1000 genomes]
rs12166938	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12167320	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12168180	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12168251	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12168582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169097	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12169888	0.93[EUR][1000 genomes]
rs12170022	0.88[EUR][1000 genomes]
rs12170161	0.90[MEX][hapmap]
rs12170558	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12170953	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs12171104	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138636	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138637	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138639	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs138640	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138642	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs138646	0.81[CEU][hapmap];1.00[MEX][hapmap]
rs138651	0.86[CEU][hapmap];0.93[EUR][1000 genomes]
rs138653	0.89[CEU][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];0.93[EUR][1000 genomes]
rs138660	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs138664	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][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]
rs138679	0.89[MEX][hapmap]
rs16985691	1.00[CHD][hapmap];0.89[MEX][hapmap]
rs16985705	0.92[LWK][hapmap];0.91[MKK][hapmap]
rs16985763	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985967	0.89[MEX][hapmap];0.80[AMR][1000 genomes]
rs16986037	0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs16986077	0.87[TSI][hapmap]
rs16987005	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17390800	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17483887	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs17484337	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs2745562	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28375646	0.93[EUR][1000 genomes]
rs470098	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs470101	0.90[CEU][hapmap];1.00[MEX][hapmap]
rs470102	0.89[CEU][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs470103	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs470104	0.93[EUR][1000 genomes]
rs55856549	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56233401	0.88[EUR][1000 genomes]
rs56393679	0.80[AMR][1000 genomes]
rs57686964	0.88[EUR][1000 genomes]
rs58050941	0.88[EUR][1000 genomes]
rs58823697	0.88[EUR][1000 genomes]
rs7286519	0.93[EUR][1000 genomes]
rs7288331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289984	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292562	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73880355	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880374	0.93[EUR][1000 genomes]
rs73880375	0.93[EUR][1000 genomes]
rs73880376	0.93[EUR][1000 genomes]
rs73880381	0.93[EUR][1000 genomes]
rs73880382	0.86[EUR][1000 genomes]
rs73880383	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73880384	0.82[EUR][1000 genomes]
rs73880385	0.81[EUR][1000 genomes]
rs73880387	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880393	0.86[EUR][1000 genomes]
rs761322	0.81[EUR][1000 genomes]
rs761323	0.88[EUR][1000 genomes]
rs8141163	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141173	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142920	0.89[MEX][hapmap]
rs9306449	0.91[MKK][hapmap]
rs9306451	0.81[EUR][1000 genomes]
rs9620752	0.81[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620755	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620757	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620762	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs9620764	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs9620766	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9620767	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9620768	0.89[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620769	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs9620771	0.86[EUR][1000 genomes]
rs9625350	0.84[AFR][1000 genomes]
rs9625352	1.00[MEX][hapmap]
rs9625361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625366	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625370	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625375	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625377	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625387	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9625388	0.93[EUR][1000 genomes]
rs9625390	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9625391	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs9625393	0.82[EUR][1000 genomes]
rs9625395	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625396	0.81[EUR][1000 genomes]
rs9625397	0.81[EUR][1000 genomes]
rs9625398	0.81[EUR][1000 genomes]
rs9625399	0.81[EUR][1000 genomes]
rs9625400	0.81[EUR][1000 genomes]
rs9625402	0.81[EUR][1000 genomes]
rs9625403	0.80[AMR][1000 genomes]
rs9625408	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9625409	0.86[EUR][1000 genomes]
rs9625410	0.84[EUR][1000 genomes]
rs9625413	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625415	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625416	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625417	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625418	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625421	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9985213	0.97[AMR][1000 genomes];1.00[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
2	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
5	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:28319600-28358000	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:28321200-28358400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
10	chr22:28322000-28365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:28322000-28366200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr22:28326800-28368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
14	chr22:28339400-28367800	Weak transcription	Fetal Intestine Small	intestine
15	chr22:28346000-28356600	Weak transcription	HepG2	liver
16	chr22:28348400-28357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:28348800-28358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:28348800-28358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:28349200-28358400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:28349400-28358000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:28351000-28362200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:28352000-28357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:28353400-28369200	Weak transcription	Fetal Stomach	stomach
24	chr22:28354600-28357800	Weak transcription	Fetal Kidney	kidney
25	chr22:28354800-28356000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr22:28354800-28358400	Weak transcription	Brain Substantia Nigra	brain
27	chr22:28354800-28360600	Enhancers	Liver	Liver
28	chr22:28355000-28355600	Enhancers	Fetal Heart	heart
29	chr22:28355000-28356000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:28355000-28356000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:28355200-28355600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:28355200-28355800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr22:28355200-28355800	Enhancers	Aorta	Aorta
34	chr22:28355200-28355800	Enhancers	Brain Anterior Caudate	brain
35	chr22:28355200-28355800	Enhancers	Brain Hippocampus Middle	brain
36	chr22:28355200-28355800	Enhancers	Left Ventricle	heart
37	chr22:28355200-28355800	Enhancers	Pancreas	Pancrea
38	chr22:28355200-28355800	Enhancers	Right Atrium	heart
39	chr22:28355200-28356000	Enhancers	Psoas Muscle	Psoas
40	chr22:28355200-28356600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr22:28355200-28356600	Enhancers	HUVEC	blood vessel
42	chr22:28355200-28357000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr22:28355200-28357000	Enhancers	Fetal Muscle Leg	muscle
44	chr22:28355400-28355600	Enhancers	Gastric	stomach
45	chr22:28355400-28355800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr22:28355400-28355800	Enhancers	Fetal Lung	lung
47	chr22:28355400-28355800	Enhancers	Right Ventricle	heart
48	chr22:28355400-28356600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr22:28355400-28356600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:28355400-28357000	Enhancers	Ovary	ovary

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