Variant report

Variant	rs13319005
Chromosome Location	chr3:54274520-54274521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12632182	1.00[YRI][hapmap]
rs13322337	1.00[AMR][1000 genomes]
rs28560392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9809130	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9816122	1.00[AMR][1000 genomes]
rs9816445	1.00[YRI][hapmap]
rs9818719	1.00[YRI][hapmap]
rs9822780	1.00[YRI][hapmap]
rs9828425	1.00[AMR][1000 genomes]
rs9830052	1.00[AMR][1000 genomes]
rs9836702	1.00[AMR][1000 genomes]
rs9844238	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9844994	1.00[AMR][1000 genomes]
rs9845702	1.00[AMR][1000 genomes]
rs9853670	1.00[AMR][1000 genomes]
rs9858447	1.00[AMR][1000 genomes]
rs9859898	1.00[YRI][hapmap]
rs9861079	1.00[AMR][1000 genomes]
rs9863977	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9864089	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9874563	1.00[YRI][hapmap]
rs9877208	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1001802	chr3:54236994-54275831	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv817328	chr3:54250314-54380438	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv876806	chr3:54256648-54330010	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv460555	chr3:54270646-54293345	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv460556	chr3:54270646-54293345	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv590359	chr3:54270646-54293345	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv470594	chr3:54270646-54296591	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54265200-54279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:54265400-54278000	Weak transcription	Psoas Muscle	Psoas
3	chr3:54272200-54275600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:54273000-54277800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:54273600-54274600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:54274200-54274800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:54274400-54274800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr3:54274400-54274800	Enhancers	HUES48 Cell Line	embryonic stem cell

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