Variant report

Variant	rs12030146
Chromosome Location	chr1:47931719-47931720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47931303..47933156-chr1:47933454..47935118,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11211529	1.00[EUR][1000 genomes]
rs11211536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12021515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12026379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12032801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12049163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12049416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1680019	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17103177	1.00[EUR][1000 genomes]
rs17103179	1.00[EUR][1000 genomes]
rs17103196	1.00[EUR][1000 genomes]
rs1765156	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1813427	1.00[EUR][1000 genomes]
rs2253511	1.00[EUR][1000 genomes]
rs2506984	1.00[EUR][1000 genomes]
rs2622906	1.00[EUR][1000 genomes]
rs2622911	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3738317	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4926868	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs495482	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs506329	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs522768	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527430	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs557101	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60042036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784813	0.90[ASN][1000 genomes]
rs642750	1.00[EUR][1000 genomes]
rs6683513	0.87[EUR][1000 genomes]
rs6688278	0.87[EUR][1000 genomes]
rs66904716	1.00[EUR][1000 genomes]
rs6703935	1.00[EUR][1000 genomes]
rs693036	1.00[EUR][1000 genomes]
rs72480616	1.00[EUR][1000 genomes]
rs72553947	1.00[EUR][1000 genomes]
rs72553949	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47925800-47934200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47931400-47931800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr1:47931400-47931800	Enhancers	Psoas Muscle	Psoas
4	chr1:47931400-47932000	Enhancers	Aorta	Aorta
5	chr1:47931400-47932000	Enhancers	Pancreas	Pancrea
6	chr1:47931400-47932000	Enhancers	Skeletal Muscle Male	skeletal muscle

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