Variant report

Variant	rs73032456
Chromosome Location	chr5:5104668-5104669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11959101	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16874685	0.93[AMR][1000 genomes]
rs16874686	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16874715	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57249853	0.82[AMR][1000 genomes]
rs57546252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59778893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6555329	0.93[AMR][1000 genomes]
rs6866197	0.93[AMR][1000 genomes]
rs6887691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6898045	0.81[AFR][1000 genomes]
rs73032459	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049833	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73738308	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816165	chr5:5103652-5109824	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv1817587	chr5:5103652-5109824	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv1822715	chr5:5103652-5109824	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5103800-5105200	Weak transcription	HSMM	muscle
2	chr5:5104400-5105400	Enhancers	NHEK	skin
3	chr5:5104400-5106400	Enhancers	HMEC	breast
4	chr5:5104600-5104800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr5:5104600-5104800	Enhancers	Fetal Kidney	kidney
6	chr5:5104600-5105400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	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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