Variant report

Variant	rs12949518
Chromosome Location	chr17:33667492-33667493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1074218	0.91[EUR][1000 genomes]
rs11650920	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11651218	1.00[ASN][1000 genomes]
rs11651245	0.91[EUR][1000 genomes]
rs11651319	0.91[EUR][1000 genomes]
rs11652130	0.88[EUR][1000 genomes]
rs11653436	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11654381	1.00[ASN][1000 genomes]
rs11656369	0.91[EUR][1000 genomes]
rs11656611	0.91[EUR][1000 genomes]
rs11656615	0.91[EUR][1000 genomes]
rs11657050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657485	0.90[EUR][1000 genomes]
rs11657727	0.91[EUR][1000 genomes]
rs1838148	1.00[ASN][1000 genomes]
rs1913545	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1949262	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1961422	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34067675	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34428859	0.89[EUR][1000 genomes]
rs34600319	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34658850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34809170	0.91[EUR][1000 genomes]
rs35077171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35225019	0.90[EUR][1000 genomes]
rs35240455	0.90[EUR][1000 genomes]
rs35403677	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36023402	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55976095	0.91[EUR][1000 genomes]
rs55990593	1.00[ASN][1000 genomes]
rs61532107	0.90[EUR][1000 genomes]
rs62078112	1.00[ASN][1000 genomes]
rs6505453	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6505455	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6505456	0.91[EUR][1000 genomes]
rs6505465	0.88[EUR][1000 genomes]
rs71381430	0.91[EUR][1000 genomes]
rs7207589	0.87[EUR][1000 genomes]
rs7209179	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7211292	0.91[EUR][1000 genomes]
rs7211779	0.83[EUR][1000 genomes]
rs7212155	0.91[EUR][1000 genomes]
rs7212335	0.91[EUR][1000 genomes]
rs7218056	0.91[EUR][1000 genomes]
rs7219082	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7219880	0.91[EUR][1000 genomes]
rs7222533	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7222750	0.91[EUR][1000 genomes]
rs7223251	0.91[EUR][1000 genomes]
rs7223904	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7224028	0.91[EUR][1000 genomes]
rs7224555	0.91[EUR][1000 genomes]
rs72825923	1.00[ASN][1000 genomes]
rs72825924	1.00[ASN][1000 genomes]
rs72825932	1.00[ASN][1000 genomes]
rs72825958	1.00[ASN][1000 genomes]
rs8081294	0.92[EUR][1000 genomes]
rs9747499	0.89[EUR][1000 genomes]
rs9898870	1.00[ASN][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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33641200-33668600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:33653000-33671200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:33660200-33668000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr17:33661200-33668000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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