Variant report

Variant	rs62270193
Chromosome Location	chr3:139433324-139433325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10935341	0.87[ASN][1000 genomes]
rs12186041	0.90[ASN][1000 genomes]
rs12632145	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12634170	0.90[ASN][1000 genomes]
rs13074121	0.90[ASN][1000 genomes]
rs16849303	0.90[ASN][1000 genomes]
rs16849305	0.90[ASN][1000 genomes]
rs16849307	0.90[ASN][1000 genomes]
rs16849309	0.90[ASN][1000 genomes]
rs35449667	0.90[ASN][1000 genomes]
rs35657101	0.90[ASN][1000 genomes]
rs3922940	0.90[ASN][1000 genomes]
rs4474999	0.91[ASN][1000 genomes]
rs4518082	0.90[ASN][1000 genomes]
rs4535184	0.90[ASN][1000 genomes]
rs4549242	0.88[ASN][1000 genomes]
rs4615039	0.90[ASN][1000 genomes]
rs56711752	0.90[ASN][1000 genomes]
rs57304307	0.90[ASN][1000 genomes]
rs59476496	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62270189	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62273120	0.93[ASN][1000 genomes]
rs62273121	0.93[ASN][1000 genomes]
rs62273122	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6808215	0.90[ASN][1000 genomes]
rs7617537	0.90[ASN][1000 genomes]
rs7636269	0.90[ASN][1000 genomes]
rs7651551	0.90[ASN][1000 genomes]
rs9289581	0.90[ASN][1000 genomes]
rs9810042	0.89[ASN][1000 genomes]
rs9810049	0.90[ASN][1000 genomes]
rs9815708	0.90[ASN][1000 genomes]
rs9833539	0.90[ASN][1000 genomes]
rs9848375	0.90[ASN][1000 genomes]
rs9865942	0.90[ASN][1000 genomes]
rs9871543	0.90[ASN][1000 genomes]
rs9878498	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv460865	chr3:139411031-139455326	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv591857	chr3:139411031-139455326	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139423200-139433800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:139430000-139433400	Weak transcription	HepG2	liver
3	chr3:139433200-139436000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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