Variant report

Variant	rs12450322
Chromosome Location	chr17:33649279-33649280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11869333	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11871908	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548182	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1961017	0.89[ASN][1000 genomes]
rs2010407	0.81[AMR][1000 genomes]
rs4796071	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4796072	0.81[EUR][1000 genomes]
rs4796073	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6505458	0.87[ASN][1000 genomes]
rs6505459	0.86[ASN][1000 genomes]
rs6505460	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6505461	0.87[ASN][1000 genomes]
rs6505462	0.87[ASN][1000 genomes]
rs7209244	0.87[ASN][1000 genomes]
rs7211671	0.87[ASN][1000 genomes]
rs7215259	0.85[ASN][1000 genomes]
rs7219864	0.89[ASN][1000 genomes]
rs7220345	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220501	0.85[ASN][1000 genomes]
rs8068794	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8070528	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8079268	0.86[ASN][1000 genomes]
rs9893160	0.85[ASN][1000 genomes]
rs9898340	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9904880	0.86[ASN][1000 genomes]
rs9905691	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9912824	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9915102	0.85[ASN][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33640800-33650200	Weak transcription	Aorta	Aorta
2	chr17:33641200-33650400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:33641200-33668600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:33641400-33653200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:33641600-33650200	Weak transcription	Thymus	Thymus
6	chr17:33641800-33654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:33642200-33652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:33643200-33650000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr17:33643200-33650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:33645800-33649600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:33648000-33649400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:33648200-33652800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:33648600-33650600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:33648800-33649400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:33648800-33650400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr17:33648800-33651800	Strong transcription	Primary T cells from cord blood	blood
17	chr17:33648800-33652200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:33648800-33652600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr17:33649000-33652200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:33649000-33652400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr17:33649200-33650200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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