Variant report

Variant	rs1509279
Chromosome Location	chr3:80239395-80239396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11914592	1.00[EUR][1000 genomes]
rs17017656	1.00[EUR][1000 genomes]
rs17017666	1.00[EUR][1000 genomes]
rs1813776	1.00[EUR][1000 genomes]
rs2340395	1.00[EUR][1000 genomes]
rs2340396	1.00[EUR][1000 genomes]
rs4387931	1.00[EUR][1000 genomes]
rs4856281	1.00[EUR][1000 genomes]
rs4856282	1.00[EUR][1000 genomes]
rs56055599	1.00[EUR][1000 genomes]
rs58911301	1.00[EUR][1000 genomes]
rs72901331	1.00[EUR][1000 genomes]
rs72901346	1.00[EUR][1000 genomes]
rs73850478	1.00[EUR][1000 genomes]
rs73850484	1.00[EUR][1000 genomes]
rs73852649	1.00[EUR][1000 genomes]
rs73852666	1.00[EUR][1000 genomes]
rs7610483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs932092	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590740	chr3:79999534-80575042	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv997786	chr3:80008898-80489031	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536598	chr3:80008898-80489031	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv877030	chr3:80013063-80444843	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1014658	chr3:80035786-80716259	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv536599	chr3:80035786-80716259	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv997720	chr3:80035786-80745662	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1012046	chr3:80125918-80482086	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv470683	chr3:80158184-80269377	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv460732	chr3:80158184-80271286	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv590762	chr3:80158184-80271286	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv520475	chr3:80166311-80269377	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2763283	chr3:80236103-80266208	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80238600-80239400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:80238600-80240000	Flanking Active TSS	HUVEC	blood vessel
3	chr3:80238800-80239600	Active TSS	Ovary	ovary
4	chr3:80238800-80239800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:80238800-80239800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:80239000-80239400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:80239000-80239400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:80239000-80239600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:80239000-80239800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:80239000-80239800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:80239000-80239800	Enhancers	Hela-S3	cervix
12	chr3:80239200-80239600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:80239200-80239600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:80239200-80239600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:80239200-80239600	Enhancers	Fetal Lung	lung
16	chr3:80239200-80239800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:80239200-80239800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:80239200-80239800	Flanking Active TSS	NH-A	brain
19	chr3:80239200-80240000	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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