Variant report

Variant	rs62279674
Chromosome Location	chr3:142947199-142947200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11708440	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1550548	0.92[ASN][1000 genomes]
rs17470719	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2165519	0.80[ASN][1000 genomes]
rs2165521	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4839637	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57923975	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440154	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67665960	0.86[EUR][1000 genomes]
rs6772917	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6787156	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6808316	0.87[ASN][1000 genomes]
rs7642629	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7646566	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9289657	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9830629	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9831427	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9874117	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv818171	chr3:142894411-142960273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1009573	chr3:142896048-142959777	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757014	chr3:142905661-142964373	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3351224	chr3:142946938-142947387	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142937600-142947600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:142939400-142955000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:142940600-142947200	Weak transcription	Fetal Thymus	thymus
4	chr3:142941600-142956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:142942200-142947200	Weak transcription	K562	blood
6	chr3:142944000-142955200	Weak transcription	Fetal Lung	lung
7	chr3:142946000-142947400	Weak transcription	Dnd41	blood

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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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