Variant report

Variant	rs12952232
Chromosome Location	chr17:33643163-33643164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1081697	0.83[EUR][1000 genomes]
rs1554044	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4796077	1.00[CEU][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes]
rs62064209	0.96[EUR][1000 genomes]
rs62064210	0.96[EUR][1000 genomes]
rs62064211	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064212	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62064246	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62079537	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62079540	0.96[EUR][1000 genomes]
rs62079541	0.96[EUR][1000 genomes]
rs62079542	0.87[EUR][1000 genomes]
rs62079543	0.96[EUR][1000 genomes]
rs62079545	0.96[EUR][1000 genomes]
rs62079546	0.96[EUR][1000 genomes]
rs62079547	0.96[EUR][1000 genomes]
rs62079548	0.96[EUR][1000 genomes]
rs62079549	0.96[EUR][1000 genomes]
rs7207186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7211398	0.96[EUR][1000 genomes]
rs9899691	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv457724	chr17:33609247-33691409	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv574742	chr17:33609247-33691409	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33640000-33643200	Enhancers	HMEC	breast
2	chr17:33640200-33643200	Enhancers	NHLF	lung
3	chr17:33640800-33643200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:33640800-33650200	Weak transcription	Aorta	Aorta
5	chr17:33641000-33643400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:33641200-33650400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:33641200-33668600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:33641400-33643200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr17:33641400-33643200	Enhancers	Hela-S3	cervix
10	chr17:33641400-33643400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr17:33641400-33653200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:33641600-33643200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr17:33641600-33643400	Enhancers	Adipose Nuclei	Adipose
14	chr17:33641600-33650200	Weak transcription	Thymus	Thymus
15	chr17:33641800-33643200	Enhancers	HSMM	muscle
16	chr17:33641800-33643200	Enhancers	HSMMtube	muscle
17	chr17:33641800-33648800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:33641800-33654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:33642000-33643200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr17:33642000-33644800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:33642000-33648800	Weak transcription	Primary T cells from cord blood	blood
22	chr17:33642000-33648800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr17:33642200-33643200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr17:33642200-33645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:33642200-33649000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:33642200-33652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:33642400-33643200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr17:33642600-33644200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr17:33642600-33648200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr17:33642600-33648800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr17:33642800-33648800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:33643000-33643400	Enhancers	K562	blood
33	chr17:33643000-33648000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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