Variant report

Variant	rs12306996
Chromosome Location	chr12:66652595-66652596
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66647878..66650975-chr12:66651939..66654743,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11176101	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176102	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176103	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176104	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176108	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176111	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11176112	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11176113	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176114	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176119	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176123	1.00[EUR][1000 genomes]
rs11541076	0.89[ASN][1000 genomes]
rs12300494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12300976	0.93[ASN][1000 genomes]
rs12301281	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12307547	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307857	0.93[ASN][1000 genomes]
rs12308374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310345	1.00[EUR][1000 genomes]
rs12312158	1.00[EUR][1000 genomes]
rs12314232	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314623	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12318122	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12320290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12320341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12321294	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579472	0.80[AMR][1000 genomes]
rs12579968	0.93[ASN][1000 genomes]
rs12580690	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1436848	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17102269	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2082994	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34776697	0.93[ASN][1000 genomes]
rs57747494	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7132241	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313493	0.88[AMR][1000 genomes]
rs903585	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9325181	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9971828	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9971830	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9971831	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9971850	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9971905	0.91[AMR][1000 genomes];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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66642600-66652800	Weak transcription	Spleen	Spleen
2	chr12:66646000-66662000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:66650800-66663400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:66651000-66653000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:66651400-66653200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:66651600-66653000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:66651800-66652600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:66651800-66652800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:66652000-66653000	Enhancers	Primary monocytes fromperipheralblood	blood

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