Variant report

Variant	rs12627941
Chromosome Location	chr22:31661725-31661726
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31655331..31658789-chr22:31661479..31663672,3	K562	blood:

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

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

rs_ID	r²[population]
rs1005624	0.83[ASN][1000 genomes]
rs1034587	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10428007	0.94[ASN][1000 genomes]
rs11089491	0.83[ASN][1000 genomes]
rs12628752	0.89[ASN][1000 genomes]
rs17220369	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2027982	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2072193	0.84[JPT][hapmap];1.00[AFR][1000 genomes]
rs2073858	0.84[ASN][1000 genomes]
rs2074735	0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes]
rs2239905	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2239906	0.94[ASN][1000 genomes]
rs2267169	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]
rs2267170	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267171	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2283878	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2283880	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2413041	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs28514306	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34184692	0.90[ASN][1000 genomes]
rs3761431	0.81[CHB][hapmap]
rs3788428	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs4561750	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4615	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4820952	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820965	0.89[ASN][1000 genomes]
rs55900008	0.88[ASN][1000 genomes]
rs5749231	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5749232	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs5749237	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs5749244	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5749254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749260	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753487	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs5753488	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs5753518	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs5753528	0.94[ASN][1000 genomes]
rs5753531	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753550	0.91[ASN][1000 genomes]
rs5753551	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs5753559	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753560	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs5753592	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753595	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs58315696	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997898	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs5997940	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs61006749	0.89[ASN][1000 genomes]
rs62237404	0.90[ASN][1000 genomes]
rs62237436	0.86[ASN][1000 genomes]
rs68136222	0.94[ASN][1000 genomes]
rs72617294	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72617295	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72617298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73158522	0.86[ASN][1000 genomes]
rs737809	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs886074	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9609263	0.81[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31644200-31665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:31645200-31667000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:31645400-31661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:31650200-31666200	Strong transcription	HepG2	liver
9	chr22:31650200-31675600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:31650600-31676400	Weak transcription	Hela-S3	cervix
12	chr22:31651400-31670200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:31651600-31667000	Weak transcription	Fetal Heart	heart
14	chr22:31651800-31675800	Strong transcription	HMEC	breast
15	chr22:31652800-31675800	Strong transcription	NHEK	skin
16	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:31653000-31667400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:31653400-31670200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr22:31653600-31665000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr22:31653600-31668400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr22:31653800-31665000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:31653800-31667800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:31653800-31668600	Weak transcription	Fetal Brain Male	brain
24	chr22:31653800-31670800	Strong transcription	Primary T cells from cord blood	blood
25	chr22:31653800-31676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:31654000-31664000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:31654000-31664800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:31654000-31665000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr22:31654000-31665400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:31654000-31668400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr22:31654000-31668400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:31654000-31668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:31654000-31668800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr22:31654000-31669000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr22:31654000-31676400	Strong transcription	Thymus	Thymus
36	chr22:31654000-31680400	Strong transcription	Lung	lung
37	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
38	chr22:31654200-31665000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:31654200-31665200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:31654200-31665200	Strong transcription	Osteobl	bone
41	chr22:31654200-31668600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:31654200-31677200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:31654400-31662000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:31654400-31665000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:31654800-31665000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:31654800-31665000	Strong transcription	Fetal Lung	lung
50	chr22:31655200-31668600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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