Variant report

Variant	rs59349044
Chromosome Location	chr1:62756380-62756381
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11799578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805988	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1325739	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1925826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58577621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61553333	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62753000-62756400	Enhancers	HepG2	liver
2	chr1:62753200-62760000	Weak transcription	Fetal Stomach	stomach
3	chr1:62753200-62761600	Weak transcription	Pancreas	Pancrea
4	chr1:62753200-62761600	Weak transcription	Right Atrium	heart
5	chr1:62754200-62760200	Weak transcription	Placenta	Placenta
6	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:62754800-62765200	Weak transcription	Fetal Heart	heart
8	chr1:62755000-62759800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:62755200-62759800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:62755600-62761000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:62756200-62765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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