Variant report

Variant	rs6449472
Chromosome Location	chr5:59800084-59800085
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16878165	0.89[AFR][1000 genomes]
rs57261286	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58566905	1.00[EUR][1000 genomes]
rs58771608	1.00[EUR][1000 genomes]
rs59696553	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60131839	1.00[EUR][1000 genomes]
rs61058479	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73108695	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73759058	1.00[EUR][1000 genomes]
rs73759059	1.00[EUR][1000 genomes]
rs73759069	1.00[EUR][1000 genomes]
rs7703881	0.83[EUR][1000 genomes]
rs7725694	1.00[EUR][1000 genomes]
rs7728159	1.00[EUR][1000 genomes]
rs7737629	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59782000-59801000	Weak transcription	Fetal Brain Male	brain
2	chr5:59791400-59801000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:59794800-59803800	Weak transcription	Osteobl	bone
4	chr5:59794800-59805800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:59795200-59801200	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:59796000-59800200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:59798600-59800600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:59798600-59802000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:59799200-59800200	Enhancers	HepG2	liver
10	chr5:59799200-59800600	Enhancers	Hela-S3	cervix
11	chr5:59799800-59800400	Active TSS	GM12878-XiMat	blood
12	chr5:59800000-59800400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:59800000-59803400	Weak transcription	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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