Variant report

Variant	rs1319764
Chromosome Location	chr5:5058204-5058205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10041066	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13435958	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436228	0.83[AMR][1000 genomes]
rs13436478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16874655	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16874657	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16874683	0.91[AMR][1000 genomes]
rs2134146	0.80[AMR][1000 genomes]
rs2399752	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58552613	0.91[AMR][1000 genomes]
rs58567957	0.90[AMR][1000 genomes]
rs59511253	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61119570	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9313096	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9313097	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9313098	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs995192	0.91[AMR][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	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	nsv528548	chr5:5050830-5060591	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5051200-5066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:5056800-5062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:5057200-5058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:5058000-5064400	Weak transcription	Fetal Kidney	kidney

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

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