Variant report

Variant	rs12404720
Chromosome Location	chr1:215970016-215970017
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	chr1:215964422..215967259-chr1:215967947..215970309,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10082095	0.91[ASN][1000 genomes]
rs10082147	0.88[ASN][1000 genomes]
rs10779661	0.91[ASN][1000 genomes]
rs10864203	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864205	0.91[ASN][1000 genomes]
rs10864207	0.92[ASN][1000 genomes]
rs11120646	0.91[ASN][1000 genomes]
rs11120649	0.91[ASN][1000 genomes]
rs11120651	0.92[ASN][1000 genomes]
rs11120653	0.93[ASN][1000 genomes]
rs11120664	0.91[ASN][1000 genomes]
rs11120666	0.91[ASN][1000 genomes]
rs12029340	0.91[ASN][1000 genomes]
rs12042414	0.91[ASN][1000 genomes]
rs12043203	0.91[ASN][1000 genomes]
rs12046040	0.92[ASN][1000 genomes]
rs12049039	0.92[ASN][1000 genomes]
rs12049485	0.91[ASN][1000 genomes]
rs12725398	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547765	0.91[ASN][1000 genomes]
rs1934425	0.88[ASN][1000 genomes]
rs1934429	0.92[ASN][1000 genomes]
rs1934432	0.92[ASN][1000 genomes]
rs1972368	0.91[ASN][1000 genomes]
rs2027355	0.92[ASN][1000 genomes]
rs2364866	0.93[ASN][1000 genomes]
rs28477637	0.92[ASN][1000 genomes]
rs34007298	0.84[ASN][1000 genomes]
rs3884585	0.94[ASN][1000 genomes]
rs4143467	0.91[ASN][1000 genomes]
rs4268330	0.92[ASN][1000 genomes]
rs4330894	0.94[ASN][1000 genomes]
rs4375238	0.94[ASN][1000 genomes]
rs4390149	0.93[ASN][1000 genomes]
rs4528089	0.92[ASN][1000 genomes]
rs4528090	0.92[ASN][1000 genomes]
rs4545310	0.92[ASN][1000 genomes]
rs4571939	0.90[ASN][1000 genomes]
rs6540912	0.94[ASN][1000 genomes]
rs71639583	0.84[ASN][1000 genomes]
rs721099	0.84[ASN][1000 genomes]
rs7516792	0.91[ASN][1000 genomes]
rs7556611	0.91[ASN][1000 genomes]
rs9887827	0.91[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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv549192	chr1:215967857-216034753	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215967600-215971000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:215967600-215971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:215968000-215971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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