Variant report

Variant	rs59709353
Chromosome Location	chr17:46593319-46593320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11650389	1.00[EUR][1000 genomes]
rs11651053	0.87[EUR][1000 genomes]
rs11652654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11653539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11653644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11655171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11655546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11657206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2740759	0.87[EUR][1000 genomes]
rs73985866	0.87[EUR][1000 genomes]
rs8065730	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46589200-46593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:46590800-46599600	Weak transcription	Right Atrium	heart
3	chr17:46591200-46599400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:46592000-46596800	Weak transcription	K562	blood
5	chr17:46592000-46604000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:46592200-46593600	Weak transcription	A549	lung
7	chr17:46592200-46599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:46592400-46594800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46592400-46599400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:46592600-46594600	Weak transcription	GM12878-XiMat	blood
11	chr17:46592600-46597800	Weak transcription	HSMM	muscle
12	chr17:46592800-46593400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr17:46592800-46593400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr17:46592800-46595200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:46593000-46593800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:46593200-46593400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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