Variant report

Variant	rs28684497
Chromosome Location	chr5:147182998-147182999
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10039761	1.00[EUR][1000 genomes]
rs10040102	1.00[EUR][1000 genomes]
rs10043586	1.00[EUR][1000 genomes]
rs10078349	1.00[EUR][1000 genomes]
rs13353996	1.00[EUR][1000 genomes]
rs13355958	1.00[EUR][1000 genomes]
rs13360178	1.00[EUR][1000 genomes]
rs13360252	1.00[EUR][1000 genomes]
rs28401755	1.00[EUR][1000 genomes]
rs28437385	1.00[EUR][1000 genomes]
rs28478293	1.00[EUR][1000 genomes]
rs28479902	1.00[EUR][1000 genomes]
rs28570984	1.00[EUR][1000 genomes]
rs28588162	1.00[EUR][1000 genomes]
rs28609427	1.00[EUR][1000 genomes]
rs28613022	1.00[EUR][1000 genomes]
rs28707309	1.00[EUR][1000 genomes]
rs59404183	1.00[EUR][1000 genomes]
rs60735175	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv933308	chr5:147173804-147269006	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2760986	chr5:147180483-147185466	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147182000-147183200	Weak transcription	Liver	Liver
2	chr5:147182400-147183000	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:147182400-147183000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:147182400-147183000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:147182600-147184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:147182600-147185800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:147182800-147185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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