Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:161038392..161046344-chr3:161085640..161093564,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10513564	0.81[CEU][hapmap]
rs10936227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711695	0.80[CEU][hapmap]
rs11715591	0.82[CEU][hapmap]
rs11718905	0.81[CEU][hapmap]
rs13059340	0.82[CEU][hapmap]
rs13062740	0.81[CEU][hapmap]
rs13073147	0.82[CEU][hapmap]
rs13084731	0.84[EUR][1000 genomes]
rs13084746	0.84[EUR][1000 genomes]
rs1382429	0.81[CEU][hapmap]
rs1450519	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1450521	0.82[EUR][1000 genomes]
rs1450522	0.81[CEU][hapmap]
rs1450523	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs16832082	0.82[CEU][hapmap]
rs2054710	0.81[CEU][hapmap]
rs4856703	0.81[CEU][hapmap]
rs4856769	0.82[CEU][hapmap]
rs60625846	0.84[EUR][1000 genomes]
rs6441374	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs6780536	0.81[CEU][hapmap]
rs67988738	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7610800	0.82[CEU][hapmap]
rs9844862	0.88[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv829770	chr3:160989573-161069223	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv4091	chr3:161018540-161063875	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4856701	SPTSSB	cis	Thyroid	GTEx
rs4856701	SPTSSB	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161043800-161048200	Weak transcription	HepG2	liver

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