Variant report

Variant	rs12170558
Chromosome Location	chr22:28470623-28470624
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10154425	0.88[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10212007	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10212036	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10212040	0.81[AMR][1000 genomes]
rs10212074	0.82[AMR][1000 genomes]
rs10483142	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483143	1.00[CEU][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]
rs118840	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165651	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12165797	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12166023	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12166077	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166158	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166164	0.84[EUR][1000 genomes]
rs12166256	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166389	0.81[EUR][1000 genomes]
rs12166719	0.88[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166740	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166912	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167320	0.81[EUR][1000 genomes]
rs12167829	0.81[EUR][1000 genomes]
rs12168054	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12168180	0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168582	0.80[AMR][1000 genomes]
rs12169097	0.81[EUR][1000 genomes]
rs12169888	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169936	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12170022	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170953	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171104	0.80[AMR][1000 genomes]
rs138636	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138637	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138639	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138640	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138642	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs138651	0.85[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138653	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138654	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138655	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138656	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs138658	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138660	0.88[CEU][hapmap];0.80[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138664	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138665	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138667	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138669	1.00[ASN][1000 genomes]
rs138670	0.82[EUR][1000 genomes]
rs138671	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138672	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985763	0.81[EUR][1000 genomes]
rs16985967	0.88[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985976	0.88[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16986037	0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986077	0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16987005	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17390800	0.81[EUR][1000 genomes]
rs17407024	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17483887	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484337	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143420	0.89[YRI][hapmap]
rs2745562	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375646	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579300	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4036493	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs470098	0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470102	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470103	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470104	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856549	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56233401	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56393679	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686964	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58050941	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7286519	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288331	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7289984	0.81[EUR][1000 genomes]
rs7292562	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880355	0.83[AMR][1000 genomes]
rs73880374	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880375	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880376	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880381	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880382	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880384	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880385	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880387	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880393	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73880395	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73882704	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73882705	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs761322	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs761323	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8141163	0.81[EUR][1000 genomes]
rs8141173	0.81[EUR][1000 genomes]
rs9306451	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306452	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620752	0.81[EUR][1000 genomes]
rs9620753	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9620755	0.80[AMR][1000 genomes]
rs9620757	0.81[EUR][1000 genomes]
rs9620762	0.88[CEU][hapmap];0.80[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620764	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620766	0.88[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620767	0.88[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620768	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620769	0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620770	0.88[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620771	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625361	0.80[AMR][1000 genomes]
rs9625363	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625367	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625370	0.81[EUR][1000 genomes]
rs9625374	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625375	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625377	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625387	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625388	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625390	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625391	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625393	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625395	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625397	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625398	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625399	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625400	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625402	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625403	0.88[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625405	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625406	0.83[EUR][1000 genomes]
rs9625407	0.81[EUR][1000 genomes]
rs9625408	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625409	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625410	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625413	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625415	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625416	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625417	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625418	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625421	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625425	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625427	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625430	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9712839	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988893	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9985213	0.81[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28445400-28470800	Weak transcription	Lung	lung
2	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
3	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:28450000-28471400	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:28456800-28471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:28457400-28471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:28458400-28471200	Weak transcription	Small Intestine	intestine
8	chr22:28459400-28471200	Weak transcription	Brain Anterior Caudate	brain
9	chr22:28459600-28471400	Weak transcription	HepG2	liver
10	chr22:28460000-28471200	Weak transcription	Aorta	Aorta
11	chr22:28461600-28470800	Weak transcription	Right Ventricle	heart
12	chr22:28461600-28471200	Weak transcription	Ovary	ovary
13	chr22:28462000-28471200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:28463000-28471400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:28465400-28471200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr22:28465400-28471200	Weak transcription	HSMMtube	muscle
17	chr22:28465800-28471400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:28466000-28471600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:28466200-28471800	Strong transcription	Dnd41	blood
20	chr22:28466400-28471200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:28466400-28471200	Weak transcription	NHLF	lung
22	chr22:28466400-28489800	Weak transcription	Fetal Brain Male	brain
23	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
24	chr22:28467800-28470800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:28467800-28471200	Weak transcription	Brain Substantia Nigra	brain
26	chr22:28468000-28471000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:28468000-28471200	Strong transcription	Fetal Stomach	stomach
28	chr22:28468400-28471200	Weak transcription	Fetal Lung	lung
29	chr22:28468400-28471200	Weak transcription	NHDF-Ad	bronchial
30	chr22:28468600-28471200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:28468600-28477200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr22:28468600-28489800	Weak transcription	Fetal Kidney	kidney
33	chr22:28468800-28480000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:28469000-28471200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:28469000-28471200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:28469000-28480000	Weak transcription	Fetal Brain Female	brain
37	chr22:28469400-28472800	Enhancers	Fetal Heart	heart
38	chr22:28470000-28471200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:28470000-28471200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr22:28470000-28474000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28470000-28475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:28470000-28486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr22:28470400-28471800	Enhancers	Left Ventricle	heart
44	chr22:28470400-28472000	Enhancers	Fetal Thymus	thymus
45	chr22:28470400-28472000	Enhancers	Right Atrium	heart
46	chr22:28470400-28472000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:28470400-28472000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr22:28470400-28472200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:28470400-28472200	Enhancers	Pancreas	Pancrea
50	chr22:28470400-28472400	Enhancers	Fetal Intestine Small	intestine

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