Variant report

Variant	rs34951553
Chromosome Location	chr5:52583839-52583840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13153694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13156370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13158674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13159322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13171311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13179965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13180278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16881303	1.00[EUR][1000 genomes]
rs34645246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34779217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34953700	1.00[EUR][1000 genomes]
rs35159810	1.00[AMR][1000 genomes]
rs35285333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35384598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35412043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35689181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71619950	1.00[EUR][1000 genomes]
rs71633452	1.00[AMR][1000 genomes]
rs71633454	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52582400-52584000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:52583400-52584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:52583400-52584000	Weak transcription	NHEK	skin
4	chr5:52583800-52585600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:52583800-52585600	Enhancers	HMEC	breast

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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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