Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223316496..223318178-chr1:223325996..223328231,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236846	Chromatin interaction
ENSG00000187554	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11485987	1.00[MEX][hapmap]
rs1612431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1613248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640805	1.00[AFR][1000 genomes]
rs1640807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640816	0.82[ASW][hapmap]
rs1640862	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1773735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773752	0.82[ASW][hapmap]
rs5744096	1.00[AMR][1000 genomes]
rs5744098	1.00[AMR][1000 genomes]
rs5744134	1.00[MEX][hapmap]
rs5744135	1.00[MEX][hapmap]
rs5744138	1.00[MEX][hapmap]
rs5744139	1.00[MEX][hapmap]
rs5744140	1.00[MEX][hapmap]
rs5744143	1.00[MEX][hapmap]
rs5744149	1.00[MEX][hapmap]
rs725083	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851153	1.00[MEX][hapmap]
rs851159	1.00[MEX][hapmap];1.00[AMR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223317600-223326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223323200-223327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:223324000-223326800	Weak transcription	Placenta	Placenta
4	chr1:223324600-223326800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:223324800-223327400	Enhancers	Stomach Mucosa	stomach
6	chr1:223325000-223327000	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:223325000-223327600	Enhancers	K562	blood
8	chr1:223325200-223326800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:223325600-223329000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:223326000-223327400	Enhancers	Gastric	stomach
11	chr1:223326200-223327400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:223326200-223327600	Enhancers	Adipose Nuclei	Adipose

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