Variant report

Variant	rs62273122
Chromosome Location	chr3:139411322-139411323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr3:139409714-139411888	SK-N-SH	brain:	n/a	chr3:139410841-139410854

No.	Distal block	Cell Line	Cell type
1	chr3:139404409..139407815-chr3:139408609..139412538,3	K562	blood:
2	chr3:139404630..139407387-chr3:139410965..139413960,2	MCF-7	breast:
3	chr3:139409787..139411878-chr3:139415425..139418176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250543	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10935341	0.91[ASN][1000 genomes]
rs12186041	0.94[ASN][1000 genomes]
rs12632145	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12634170	0.94[ASN][1000 genomes]
rs13074121	0.93[ASN][1000 genomes]
rs16849303	0.93[ASN][1000 genomes]
rs16849305	0.93[ASN][1000 genomes]
rs16849307	0.93[ASN][1000 genomes]
rs16849309	0.94[ASN][1000 genomes]
rs35449667	0.94[ASN][1000 genomes]
rs35657101	0.94[ASN][1000 genomes]
rs3922940	0.94[ASN][1000 genomes]
rs4474999	0.88[ASN][1000 genomes]
rs4518082	0.94[ASN][1000 genomes]
rs4535184	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4549242	0.92[ASN][1000 genomes]
rs4615039	0.94[ASN][1000 genomes]
rs56711752	0.93[ASN][1000 genomes]
rs57304307	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59476496	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270189	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62270193	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62273120	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62273121	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6808215	0.94[ASN][1000 genomes]
rs71627866	0.83[ASN][1000 genomes]
rs7617537	0.94[ASN][1000 genomes]
rs7636269	0.94[ASN][1000 genomes]
rs7651551	0.94[ASN][1000 genomes]
rs9289581	0.94[ASN][1000 genomes]
rs9810042	0.92[ASN][1000 genomes]
rs9810049	0.94[ASN][1000 genomes]
rs9815708	0.94[ASN][1000 genomes]
rs9833539	0.93[ASN][1000 genomes]
rs9836944	0.83[ASN][1000 genomes]
rs9848375	0.94[ASN][1000 genomes]
rs9865942	0.94[ASN][1000 genomes]
rs9871543	0.94[ASN][1000 genomes]
rs9878498	0.94[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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139409000-139417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:139409800-139413400	Weak transcription	Brain Germinal Matrix	brain
3	chr3:139411200-139411400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:139411200-139414000	Weak transcription	Fetal Heart	heart

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