Variant report

Variant	rs1514490
Chromosome Location	chr17:33669758-33669759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1000457	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1081681	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11080339	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11080341	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11080342	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11080343	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12449840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12451576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12453983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1399284	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533329	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1554045	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1554046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1949263	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1961017	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2376046	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2928997	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35716910	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3902986	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4074590	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4074591	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4503848	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4795071	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796074	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6505458	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6505459	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6505461	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6505462	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7209244	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7211671	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7215259	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7219864	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7220501	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs772104	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8079268	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9893160	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9904880	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9915102	0.93[AMR][1000 genomes];0.87[EUR][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	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
7	nsv457725	chr17:33664044-33774159	Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv574743	chr17:33664044-33774159	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking 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	12 gene(s)	inside rSNPs	diseases
9	nsv515566	chr17:33664818-33768199	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33653000-33671200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:33668000-33670000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
3	chr17:33668000-33670800	Enhancers	Primary B cells from cord blood	blood
4	chr17:33668000-33672400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:33668200-33670000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:33668200-33670400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr17:33668400-33669800	Enhancers	Dnd41	blood
8	chr17:33668400-33670000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr17:33668400-33670200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr17:33668600-33669800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:33669000-33670000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr17:33669000-33670600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:33669200-33672200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:33669200-33672400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:33669200-33672400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:33669400-33669800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
17	chr17:33669400-33671200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr17:33669400-33672200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:33669600-33670000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr17:33669600-33672200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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