Variant report

Variant	rs12168054
Chromosome Location	chr22:28512835-28512836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28503418..28506723-chr22:28511705..28514483,3	K562	blood:
2	chr22:28504287..28506723-chr22:28511705..28514349,2	K562	blood:

Extended variants
information (count: 174 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10154425	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10212036	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212040	0.90[AMR][1000 genomes]
rs10212074	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10212083	1.00[ASN][1000 genomes]
rs10483140	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10483142	0.88[CEU][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10483143	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs118840	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12165651	0.89[EUR][1000 genomes]
rs12165797	0.89[EUR][1000 genomes]
rs12166023	0.89[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166077	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12166158	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12166389	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12166719	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166740	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12166912	0.89[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166938	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12167320	0.89[EUR][1000 genomes]
rs12167735	0.89[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.89[EUR][1000 genomes]
rs12168180	0.89[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12168251	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12168582	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs12168652	1.00[ASN][1000 genomes]
rs12169097	0.89[EUR][1000 genomes]
rs12169888	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12169936	0.89[EUR][1000 genomes]
rs12170022	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12170953	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12171104	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs134194	1.00[ASN][1000 genomes]
rs134197	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs138636	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138637	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138639	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138640	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs138642	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs138648	0.89[CEU][hapmap]
rs138651	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs138653	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs138654	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs138655	0.96[EUR][1000 genomes]
rs138656	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs138658	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs138660	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes]
rs138664	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs138665	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs138667	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs138669	0.89[EUR][1000 genomes]
rs138670	0.91[EUR][1000 genomes]
rs138671	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs138672	0.96[EUR][1000 genomes]
rs138676	0.89[CEU][hapmap]
rs138679	0.89[CEU][hapmap]
rs138680	0.89[CEU][hapmap]
rs16985763	0.89[EUR][1000 genomes]
rs16985967	0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985976	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	0.89[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16986077	0.89[CEU][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	0.89[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17390800	0.89[EUR][1000 genomes]
rs17407024	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs17484337	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17487463	0.80[CEU][hapmap]
rs2143420	0.89[YRI][hapmap]
rs2745562	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28375646	0.96[EUR][1000 genomes]
rs28579300	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs470098	0.89[CEU][hapmap];0.80[YRI][hapmap];0.91[EUR][1000 genomes]
rs470101	0.80[CEU][hapmap]
rs470102	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs470103	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs470104	0.96[EUR][1000 genomes]
rs55856549	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57686964	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050941	0.91[EUR][1000 genomes]
rs58823697	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286519	0.96[EUR][1000 genomes]
rs7288331	0.89[EUR][1000 genomes]
rs7289984	0.89[EUR][1000 genomes]
rs7292562	0.89[EUR][1000 genomes]
rs73880355	0.88[EUR][1000 genomes]
rs73880374	0.96[EUR][1000 genomes]
rs73880375	0.96[EUR][1000 genomes]
rs73880376	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73880381	0.96[EUR][1000 genomes]
rs73880382	0.89[EUR][1000 genomes]
rs73880383	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73880384	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73880385	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73880387	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73880391	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73880393	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880395	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	1.00[ASN][1000 genomes]
rs761322	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141163	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs8141173	0.89[EUR][1000 genomes]
rs9306451	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9306452	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620752	0.89[EUR][1000 genomes]
rs9620753	0.89[EUR][1000 genomes]
rs9620755	0.86[EUR][1000 genomes]
rs9620757	0.89[EUR][1000 genomes]
rs9620762	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes]
rs9620764	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9620766	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620767	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620768	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9620769	0.89[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620779	1.00[ASN][1000 genomes]
rs9625361	0.88[EUR][1000 genomes]
rs9625363	0.89[EUR][1000 genomes]
rs9625366	0.88[EUR][1000 genomes]
rs9625367	0.89[EUR][1000 genomes]
rs9625370	0.89[EUR][1000 genomes]
rs9625374	0.89[EUR][1000 genomes]
rs9625375	0.89[EUR][1000 genomes]
rs9625377	0.89[EUR][1000 genomes]
rs9625387	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9625388	0.96[EUR][1000 genomes]
rs9625390	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9625391	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9625393	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625396	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625397	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625398	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625399	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625400	0.86[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625402	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625403	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625405	0.88[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625406	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625407	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625408	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]
rs9625409	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	0.89[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625416	0.89[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625417	0.89[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625418	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625430	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625433	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs9625437	1.00[ASN][1000 genomes]
rs9625440	0.80[CEU][hapmap]
rs9625441	1.00[ASN][1000 genomes]
rs9625447	0.80[CEU][hapmap]
rs9712839	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs988893	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985213	0.89[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
6	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28504400-28513200	Weak transcription	HepG2	liver
8	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:28508800-28514800	Weak transcription	Fetal Intestine Small	intestine
10	chr22:28508800-28516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:28509000-28517200	Weak transcription	Stomach Mucosa	stomach
12	chr22:28509200-28514400	Weak transcription	Adipose Nuclei	Adipose
13	chr22:28509200-28514800	Weak transcription	Fetal Brain Female	brain
14	chr22:28509400-28516400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:28509400-28516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:28509600-28513200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28510000-28515200	Weak transcription	Fetal Brain Male	brain
18	chr22:28510600-28513000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:28510600-28513200	Enhancers	Left Ventricle	heart
20	chr22:28510800-28513200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:28510800-28513600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:28510800-28513600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:28511200-28513600	Enhancers	Colon Smooth Muscle	Colon
24	chr22:28511400-28513600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:28511600-28513000	Enhancers	Stomach Smooth Muscle	stomach
26	chr22:28511600-28513200	Enhancers	Rectal Smooth Muscle	rectum
27	chr22:28511600-28513200	Enhancers	NHLF	lung
28	chr22:28511800-28513200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr22:28511800-28513400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr22:28511800-28513800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:28512000-28513000	Enhancers	Esophagus	oesophagus
32	chr22:28512000-28513000	Enhancers	Psoas Muscle	Psoas
33	chr22:28512000-28513200	Enhancers	Fetal Stomach	stomach
34	chr22:28512000-28513200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr22:28512000-28513200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:28512000-28513400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:28512000-28513400	Enhancers	Fetal Muscle Leg	muscle
38	chr22:28512000-28513600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:28512000-28516000	Enhancers	Fetal Heart	heart
40	chr22:28512200-28513000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr22:28512200-28513200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr22:28512200-28513400	Flanking Active TSS	NH-A	brain
43	chr22:28512400-28513000	Enhancers	Fetal Lung	lung
44	chr22:28512400-28513200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:28512600-28513000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:28512600-28513000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:28512600-28513000	Flanking Active TSS	Osteobl	bone
48	chr22:28512600-28513200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr22:28512600-28513200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr22:28512600-28513200	Enhancers	Pancreas	Pancrea

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