Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66648123..66650650-chr12:66653846..66656337,2	K562	blood:
2	chr12:66647878..66650975-chr12:66651939..66654743,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11176102	0.91[ASN][1000 genomes]
rs11176103	0.91[ASN][1000 genomes]
rs11176104	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs11176111	0.89[ASN][1000 genomes]
rs11176112	0.87[ASN][1000 genomes]
rs11176114	0.88[ASN][1000 genomes]
rs12300494	0.91[ASN][1000 genomes]
rs12300976	0.96[ASN][1000 genomes]
rs12306996	0.89[ASN][1000 genomes]
rs12307002	0.91[ASN][1000 genomes]
rs12307857	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12308374	0.91[ASN][1000 genomes]
rs12314623	0.91[ASN][1000 genomes]
rs12320275	0.91[ASN][1000 genomes]
rs12320290	0.91[ASN][1000 genomes]
rs12320341	0.91[ASN][1000 genomes]
rs12322090	0.91[ASN][1000 genomes]
rs12579968	0.96[ASN][1000 genomes]
rs1436848	0.91[ASN][1000 genomes]
rs17102269	0.89[ASN][1000 genomes]
rs2082994	0.89[ASN][1000 genomes]
rs34776697	0.96[ASN][1000 genomes]
rs57747494	0.89[ASN][1000 genomes]
rs903585	0.87[ASN][1000 genomes]
rs9971828	0.89[ASN][1000 genomes]
rs9971830	0.89[ASN][1000 genomes]
rs9971831	0.89[ASN][1000 genomes]
rs9971850	0.89[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	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
2	chr12:66636600-66649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:66640400-66648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:66642600-66652800	Weak transcription	Spleen	Spleen
5	chr12:66644400-66648400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:66646000-66662000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:66646400-66649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:66646600-66648800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:66646800-66650200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:66646800-66652000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:66647400-66649000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:66647600-66652000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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