Variant report

Variant	rs2870928
Chromosome Location	chr12:67484825-67484826
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	chr12:67482974..67485741-chr12:67492870..67495012,2	K562	blood:
2	chr12:67481232..67483242-chr12:67484075..67485741,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10784604	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10878554	0.82[EUR][1000 genomes]
rs10878557	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176559	0.84[EUR][1000 genomes]
rs11176566	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176574	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1526834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17781082	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1918144	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949940	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2293420	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4368011	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4913315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4913316	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4913522	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4913524	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7302646	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7305168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7962903	0.80[ASN][1000 genomes]
rs7973341	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978633	0.80[ASN][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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv899217	chr12:67472631-67501987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67482600-67485000	Weak transcription	Pancreas	Pancrea
2	chr12:67484400-67485000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:67484400-67485000	Enhancers	NHEK	skin
4	chr12:67484400-67485200	Enhancers	Esophagus	oesophagus
5	chr12:67484400-67485200	Enhancers	HMEC	breast
6	chr12:67484400-67486200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:67484800-67485200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:67484800-67485600	Enhancers	Cortex derived primary cultured neurospheres	brain

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