Variant report

Variant	rs4459585
Chromosome Location	chr17:46595139-46595140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11079823	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12951158	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4794726	0.88[AMR][1000 genomes]
rs4794741	0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6416943	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504326	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504339	1.00[EUR][1000 genomes]
rs7224409	1.00[EUR][1000 genomes]
rs7406798	0.82[AMR][1000 genomes]
rs7502340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7504072	0.83[AMR][1000 genomes]
rs8182315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893509	1.00[EUR][1000 genomes]
rs9901839	1.00[EUR][1000 genomes]
rs9906920	0.96[AFR][1000 genomes];1.00[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46590800-46599600	Weak transcription	Right Atrium	heart
2	chr17:46591200-46599400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:46592000-46596800	Weak transcription	K562	blood
4	chr17:46592000-46604000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:46592200-46599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:46592400-46599400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:46592600-46597800	Weak transcription	HSMM	muscle
8	chr17:46592800-46595200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:46593600-46595800	Enhancers	A549	lung
10	chr17:46593800-46599400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:46594200-46597200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:46594200-46599400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:46594600-46595200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr17:46594800-46595200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr17:46594800-46595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:46594800-46595200	Flanking Active TSS	GM12878-XiMat	blood
17	chr17:46595000-46597000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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