Variant report

Variant	rs2267169
Chromosome Location	chr22:31647332-31647333
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31646685..31649420-chr22:31724397..31725968,2	MCF-7	breast:
2	chr22:31641781..31645850-chr22:31646160..31651289,6	K562	blood:
3	chr22:31627806..31629543-chr22:31645486..31647563,2	MCF-7	breast:
4	chr22:31646269..31648864-chr22:31648933..31651517,2	K562	blood:
5	chr22:31643577..31645616-chr22:31646288..31648730,2	MCF-7	breast:
6	chr22:31647158..31653046-chr22:31656106..31660182,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1005624	0.81[ASN][1000 genomes]
rs1034587	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10428007	0.94[ASN][1000 genomes]
rs11089491	0.83[ASN][1000 genomes]
rs12627941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12628752	0.89[ASN][1000 genomes]
rs17220369	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2027982	0.87[JPT][hapmap]
rs2072193	0.86[JPT][hapmap];1.00[AFR][1000 genomes]
rs2073858	0.83[ASN][1000 genomes]
rs2074735	0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes]
rs2239905	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2239906	0.91[ASN][1000 genomes]
rs2267170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267171	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2283878	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2283880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2413041	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs28514306	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34184692	0.89[ASN][1000 genomes]
rs3761431	0.86[CHB][hapmap]
rs3788428	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4561750	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4615	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4820952	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4820964	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4820965	0.87[ASN][1000 genomes]
rs55900008	0.87[ASN][1000 genomes]
rs5749231	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs5749232	0.87[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs5749237	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs5749244	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs5749254	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749260	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753487	1.00[AFR][1000 genomes]
rs5753488	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs5753518	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs5753528	0.94[ASN][1000 genomes]
rs5753531	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5753550	0.89[ASN][1000 genomes]
rs5753551	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs5753559	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753560	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs5753592	0.86[EUR][1000 genomes]
rs5753595	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs58315696	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997898	0.87[JPT][hapmap]
rs5997940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs61006749	0.89[ASN][1000 genomes]
rs62237404	0.89[ASN][1000 genomes]
rs62237436	0.86[ASN][1000 genomes]
rs68136222	0.94[ASN][1000 genomes]
rs72617294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72617295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72617298	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73158522	0.85[ASN][1000 genomes]
rs737809	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs886074	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9609263	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31641400-31649600	Weak transcription	Hela-S3	cervix
2	chr22:31642800-31648200	Enhancers	Stomach Mucosa	stomach
3	chr22:31644200-31649800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:31644200-31665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31644600-31647600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr22:31644600-31647600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:31644600-31648200	Genic enhancers	Rectal Mucosa Donor 31	rectum
8	chr22:31644600-31649800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:31644600-31650400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr22:31644600-31654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:31644600-31654200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:31644600-31654400	Weak transcription	K562	blood
13	chr22:31644600-31658000	Weak transcription	Psoas Muscle	Psoas
14	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:31644800-31649200	Weak transcription	Primary T cells from cord blood	blood
16	chr22:31644800-31649600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr22:31644800-31650000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:31644800-31650000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr22:31644800-31650200	Genic enhancers	HepG2	liver
20	chr22:31644800-31650800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:31644800-31654400	Weak transcription	Liver	Liver
22	chr22:31644800-31654800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:31645000-31647400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:31645000-31648000	Enhancers	Left Ventricle	heart
25	chr22:31645000-31650000	Weak transcription	Fetal Thymus	thymus
26	chr22:31645000-31654200	Weak transcription	Fetal Brain Female	brain
27	chr22:31645000-31654400	Weak transcription	Brain Germinal Matrix	brain
28	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:31645200-31648000	Genic enhancers	Rectal Mucosa Donor 29	rectum
32	chr22:31645200-31648200	Transcr. at gene 5' and 3'	NHEK	skin
33	chr22:31645200-31654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr22:31645200-31654800	Weak transcription	Fetal Lung	lung
35	chr22:31645200-31667000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr22:31645400-31650000	Weak transcription	Colonic Mucosa	Colon
37	chr22:31645400-31650000	Weak transcription	Spleen	Spleen
38	chr22:31645400-31654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:31645400-31654000	Weak transcription	Dnd41	blood
40	chr22:31645400-31654200	Weak transcription	Brain Angular Gyrus	brain
41	chr22:31645400-31661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:31645600-31647600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:31645600-31648000	Strong transcription	HUVEC	blood vessel
44	chr22:31645600-31648800	Enhancers	Duodenum Mucosa	Duodenum
45	chr22:31645600-31654400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:31645600-31654600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr22:31645800-31648000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr22:31645800-31648400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:31645800-31648400	Enhancers	Pancreas	Pancrea
50	chr22:31645800-31649000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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