Variant report

Variant	rs424695
Chromosome Location	chr3:21490145-21490146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10490885	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12497792	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17008828	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17201257	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17201327	0.85[ASN][1000 genomes]
rs17201334	0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs17273460	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17273467	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17273474	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17273481	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17273488	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1909963	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1909964	0.82[ASN][1000 genomes]
rs365392	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs367550	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs368264	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs372122	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs375922	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs376587	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs377590	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs382006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs382519	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs384149	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849538	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3860573	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs390039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3901935	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs390643	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3907796	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs390943	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3911495	0.96[ASN][1000 genomes]
rs3911496	0.95[ASN][1000 genomes]
rs3913939	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3913940	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3913941	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3913942	0.92[ASN][1000 genomes]
rs403575	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4045436	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs414593	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs417269	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs418137	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs418442	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs425968	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4263311	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs437576	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs444724	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs446720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs447169	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451582	0.95[CHB][hapmap];0.86[EUR][1000 genomes]
rs453597	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs453990	0.90[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858324	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858325	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858326	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55878001	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55941003	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56104209	0.81[EUR][1000 genomes]
rs73042489	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73042502	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73044405	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73044408	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73044415	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73044417	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73044418	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73044420	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73044422	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73044428	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73044429	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73044450	0.89[ASN][1000 genomes]
rs73045438	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623998	0.89[ASN][1000 genomes]
rs7640908	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7640925	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs800621	0.81[LWK][hapmap];0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834630	chr3:21311619-21491327	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1006471	chr3:21385627-21596955	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1000828	chr3:21399870-21565580	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv536515	chr3:21399870-21565580	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1011226	chr3:21489712-21525789	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv822029	chr3:21490121-21490623	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21463000-21491400	Weak transcription	Aorta	Aorta
2	chr3:21477000-21491200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:21477000-21507200	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21483600-21491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:21488400-21490200	Enhancers	HSMM	muscle
6	chr3:21488400-21491200	Weak transcription	Left Ventricle	heart
7	chr3:21489200-21491200	Weak transcription	Ovary	ovary
8	chr3:21489200-21506600	Weak transcription	Fetal Stomach	stomach
9	chr3:21489400-21490400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21489400-21490400	Enhancers	NHDF-Ad	bronchial
11	chr3:21489400-21490600	Enhancers	Fetal Lung	lung
12	chr3:21489400-21491400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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