Variant report

Variant	rs2267133
Chromosome Location	chr22:29765382-29765383
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11090564	0.87[ASW][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs131180	0.82[ASN][1000 genomes]
rs140062	0.88[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs140063	0.82[ASN][1000 genomes]
rs140066	0.83[ASN][1000 genomes]
rs174759	0.85[ASN][1000 genomes]
rs174761	0.80[ASW][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs174762	0.93[ASW][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap]
rs174764	0.88[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.91[ASN][1000 genomes]
rs174765	0.86[ASN][1000 genomes]
rs174766	0.88[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs174769	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174770	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174771	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174775	0.92[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071578	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs2072051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267132	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs2267135	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2267137	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2283849	0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2283850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301290	0.88[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap]
rs2301585	0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2857462	0.81[ASN][1000 genomes]
rs28755	0.87[ASN][1000 genomes]
rs3788410	0.88[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap]
rs3788411	1.00[ASW][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4034938	0.82[JPT][hapmap]
rs4820803	0.88[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs4820804	0.80[ASW][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs5752903	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763138	0.88[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs5763139	0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs5763172	0.81[ASN][1000 genomes]
rs5763178	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763190	0.84[JPT][hapmap]
rs6006090	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs6006098	0.88[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs6006115	0.81[ASN][1000 genomes]
rs715494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs879580	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs9537	0.88[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap]
rs98069	1.00[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
2	chr22:29750600-29766800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:29753000-29777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:29754600-29770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:29755000-29772200	Weak transcription	Aorta	Aorta
6	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29755200-29773800	Weak transcription	Stomach Mucosa	stomach
8	chr22:29755200-29781000	Weak transcription	Fetal Brain Male	brain
9	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:29755400-29765400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
12	chr22:29755600-29771400	Weak transcription	Psoas Muscle	Psoas
13	chr22:29755600-29778600	Weak transcription	Fetal Lung	lung
14	chr22:29755800-29776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:29756000-29765400	Weak transcription	A549	lung
16	chr22:29756000-29766400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:29756000-29766400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr22:29756000-29766600	Weak transcription	Pancreas	Pancrea
19	chr22:29756000-29769000	Weak transcription	Gastric	stomach
20	chr22:29756000-29771400	Weak transcription	Esophagus	oesophagus
21	chr22:29756000-29771400	Weak transcription	HMEC	breast
22	chr22:29756000-29771800	Weak transcription	NHLF	lung
23	chr22:29756000-29772200	Weak transcription	Right Atrium	heart
24	chr22:29756000-29776200	Weak transcription	Small Intestine	intestine
25	chr22:29756000-29779800	Weak transcription	Brain Germinal Matrix	brain
26	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
27	chr22:29756000-29783800	Weak transcription	Ovary	ovary
28	chr22:29756200-29779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr22:29756400-29770400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:29756400-29772200	Weak transcription	Fetal Heart	heart
31	chr22:29756400-29782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:29756600-29765600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:29758200-29771800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:29758200-29777000	Weak transcription	Colonic Mucosa	Colon
35	chr22:29759400-29767600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:29761200-29766600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:29761600-29768600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:29762600-29766600	Weak transcription	Liver	Liver
39	chr22:29762600-29771400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:29762800-29765400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr22:29762800-29765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr22:29762800-29766600	Weak transcription	Lung	lung
43	chr22:29762800-29766600	Weak transcription	Spleen	Spleen
44	chr22:29762800-29767000	Weak transcription	Left Ventricle	heart
45	chr22:29762800-29768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:29762800-29770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:29762800-29771800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:29762800-29777200	Weak transcription	Fetal Brain Female	brain
49	chr22:29763000-29766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:29763000-29766400	Weak transcription	Dnd41	blood

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