Variant report

Variant	rs73020007
Chromosome Location	chr3:145033797-145033798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10935548	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10935549	0.90[EUR][1000 genomes]
rs10935550	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11716508	0.92[ASN][1000 genomes]
rs11718135	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12233454	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12233457	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233461	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1481072	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1666488	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs168268	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1838618	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2594183	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs344969	0.80[AMR][1000 genomes]
rs344970	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs345006	0.82[ASN][1000 genomes]
rs345046	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs345048	0.82[ASN][1000 genomes]
rs345049	0.82[ASN][1000 genomes]
rs345052	0.82[ASN][1000 genomes]
rs345054	0.82[ASN][1000 genomes]
rs58204686	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59123770	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59196080	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004792	chr3:144658885-145191801	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv877581	chr3:144815506-145181910	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv998288	chr3:144815560-145147528	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv877583	chr3:144880588-145066106	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv998876	chr3:144946062-145228614	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv877587	chr3:144949453-145355433	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv877588	chr3:144962452-145053828	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv877589	chr3:144962452-145066106	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv877590	chr3:144968890-145041839	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv877591	chr3:144968890-145053828	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv877592	chr3:144968890-145066106	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv877593	chr3:144968890-145092747	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv460877	chr3:144968890-145174583	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv591932	chr3:144968890-145174583	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv877594	chr3:144979382-145053828	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv877595	chr3:144979382-145066106	Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1001500	chr3:144992948-145211714	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv460878	chr3:144994727-145041839	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv591933	chr3:144994727-145041839	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv470927	chr3:144994727-145151554	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv1003916	chr3:144996733-145146269	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	nsv1001371	chr3:145028362-145124968	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145033000-145033800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:145033200-145034800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:145033400-145033800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:145033400-145034400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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