Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr14:70343180-70344315	HepG2	liver:	n/a	n/a
2	CTCF	chr14:70343340-70343490	HCT-116	colon:	n/a	n/a
3	GATA3	chr14:70342903-70343439	MCF-7	breast:	n/a	n/a
4	CEBPB	chr14:70343380-70343888	MCF-7	breast:	n/a	chr14:70343633-70343644
5	CEBPB	chr14:70343413-70343918	HepG2	liver:	n/a	chr14:70343633-70343644
6	NFIC	chr14:70343421-70344051	HepG2	liver:	n/a	n/a
7	FOXA1	chr14:70343360-70344036	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:70343404-70343848	HepG2	liver:	n/a	chr14:70343633-70343644
9	FOXA1	chr14:70343351-70344124	HepG2	liver:	n/a	n/a
10	RAD21	chr14:70343397-70343738	HepG2	liver:	n/a	n/a
11	MYBL2	chr14:70343397-70344050	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70343101..70344065-chr14:70494201..70495179,2	MCF-7	breast:

Variant related genes	Relation type
SMOC1	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10162517	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11847221	0.93[ASN][1000 genomes]
rs12431570	0.83[ASN][1000 genomes]
rs12435823	0.83[ASN][1000 genomes]
rs1318485	0.81[ASN][1000 genomes]
rs17107367	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17558139	0.89[ASN][1000 genomes]
rs1887146	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1887147	0.91[ASN][1000 genomes]
rs1887148	0.91[ASN][1000 genomes]
rs1952198	0.83[ASN][1000 genomes]
rs1952199	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1952200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958077	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4899317	0.81[ASN][1000 genomes]
rs4899318	0.81[ASN][1000 genomes]
rs4899319	0.80[ASN][1000 genomes]
rs4902759	0.80[ASN][1000 genomes]
rs55749604	0.97[ASN][1000 genomes]
rs56222421	0.96[ASN][1000 genomes]
rs56403048	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs66954838	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7155074	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7156472	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs749397	0.94[ASN][1000 genomes]
rs9323530	0.81[ASN][1000 genomes]
rs958056	0.81[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70341400-70346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70342800-70343800	Enhancers	Liver	Liver
3	chr14:70342800-70344600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:70342800-70345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:70343000-70344600	Enhancers	Adipose Nuclei	Adipose
6	chr14:70343000-70344800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:70343000-70344800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:70343200-70344000	Enhancers	HMEC	breast
9	chr14:70343200-70344200	Flanking Active TSS	HepG2	liver
10	chr14:70343200-70344800	Enhancers	Osteobl	bone
11	chr14:70343200-70345000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr14:70343200-70345400	Enhancers	Placenta	Placenta
13	chr14:70343400-70344000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr14:70343400-70345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:70343400-70345400	Enhancers	Hela-S3	cervix

Quick Search: