Variant report

Variant	rs12471583
Chromosome Location	chr2:212244718-212244719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10932374	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12467225	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13431425	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1595064	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs1595066	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1595067	0.89[ASN][1000 genomes]
rs16845990	0.83[CEU][hapmap];0.87[JPT][hapmap]
rs16846013	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16846048	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs16846049	0.83[ASN][1000 genomes]
rs1836734	0.93[ASN][1000 genomes]
rs1836735	0.95[ASN][1000 genomes]
rs1971801	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1971802	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2887992	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3791682	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs3791687	0.89[ASN][1000 genomes]
rs3791691	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3791696	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4673613	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4673614	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs60598560	0.88[ASN][1000 genomes]
rs62180134	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62180135	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6749560	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv460065	chr2:212244520-212276710	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
5	nsv584315	chr2:212244520-212276710	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212237600-212248200	Weak transcription	Aorta	Aorta
2	chr2:212242000-212246600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212244000-212254800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:212244200-212253800	Weak transcription	Fetal Heart	heart
5	chr2:212244400-212244800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:212244400-212245200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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