Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67597888..67601580-chr12:67602768..67605559,3	MCF-7	breast:
2	chr12:67599661..67601633-chr12:67605002..67607357,2	K562	blood:

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10735940	1.00[ASN][1000 genomes]
rs10748074	1.00[ASN][1000 genomes]
rs10784614	1.00[ASN][1000 genomes]
rs10878576	1.00[ASN][1000 genomes]
rs10878577	1.00[ASN][1000 genomes]
rs10878578	1.00[ASN][1000 genomes]
rs10878579	1.00[ASN][1000 genomes]
rs10878580	1.00[ASN][1000 genomes]
rs10878581	1.00[ASN][1000 genomes]
rs10878585	1.00[ASN][1000 genomes]
rs11176627	1.00[ASN][1000 genomes]
rs11176633	1.00[ASN][1000 genomes]
rs12146816	0.87[ASN][1000 genomes]
rs1370405	0.97[ASN][1000 genomes]
rs1370406	1.00[ASN][1000 genomes]
rs1595334	1.00[ASN][1000 genomes]
rs1595337	1.00[ASN][1000 genomes]
rs1657978	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1657983	1.00[ASN][1000 genomes]
rs1866068	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1866255	0.90[ASN][1000 genomes]
rs1866256	0.90[ASN][1000 genomes]
rs1898454	1.00[ASN][1000 genomes]
rs1898610	1.00[ASN][1000 genomes]
rs1898611	1.00[ASN][1000 genomes]
rs2033728	1.00[ASN][1000 genomes]
rs2043800	1.00[ASN][1000 genomes]
rs2164746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2870942	1.00[ASN][1000 genomes]
rs2917847	1.00[ASN][1000 genomes]
rs2917849	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244072	1.00[ASN][1000 genomes]
rs4397936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4913532	1.00[ASN][1000 genomes]
rs4913533	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs775313	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968916	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1042328	chr12:67573942-67617106	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67594600-67613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:67598200-67601800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:67600200-67602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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