Variant report

Variant	rs7712059
Chromosome Location	chr5:59823642-59823643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10051380	1.00[EUR][1000 genomes]
rs10071249	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078847	1.00[EUR][1000 genomes]
rs16877970	1.00[EUR][1000 genomes]
rs16877985	1.00[EUR][1000 genomes]
rs6449469	1.00[EUR][1000 genomes]
rs6870606	1.00[EUR][1000 genomes]
rs6886142	1.00[EUR][1000 genomes]
rs7705703	0.95[YRI][hapmap];0.99[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59817800-59829000	Weak transcription	Aorta	Aorta
2	chr5:59819600-59824800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:59819600-59825000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:59820000-59825000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:59820200-59824600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:59822000-59823800	Enhancers	Brain Substantia Nigra	brain
7	chr5:59822400-59824600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:59822600-59823800	Enhancers	Brain Hippocampus Middle	brain
9	chr5:59823000-59824000	Enhancers	Brain Angular Gyrus	brain
10	chr5:59823400-59824000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:59823600-59824600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:59823600-59825400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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