Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13974971..13978198-chr20:13980702..13984432,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101251	Chromatin interaction
ENSG00000172264	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11697554	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11697708	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406923	1.00[ASN][1000 genomes]
rs1810689	1.00[ASN][1000 genomes]
rs1980701	1.00[ASN][1000 genomes]
rs2038674	1.00[ASN][1000 genomes]
rs2209018	1.00[ASN][1000 genomes]
rs2327819	1.00[ASN][1000 genomes]
rs3940133	1.00[ASN][1000 genomes]
rs4814289	1.00[ASN][1000 genomes]
rs4814290	1.00[ASN][1000 genomes]
rs59177302	1.00[ASN][1000 genomes]
rs6033888	1.00[ASN][1000 genomes]
rs6033897	1.00[ASN][1000 genomes]
rs6042525	1.00[ASN][1000 genomes]
rs6042548	1.00[ASN][1000 genomes]
rs6042552	1.00[ASN][1000 genomes]
rs6042553	1.00[ASN][1000 genomes]
rs6042581	1.00[ASN][1000 genomes]
rs6079309	1.00[ASN][1000 genomes]
rs6079331	1.00[ASN][1000 genomes]
rs6079346	1.00[ASN][1000 genomes]
rs6079350	1.00[ASN][1000 genomes]
rs6079353	1.00[ASN][1000 genomes]
rs6105221	1.00[ASN][1000 genomes]
rs6110194	1.00[ASN][1000 genomes]
rs7261965	1.00[ASN][1000 genomes]
rs73255018	1.00[ASN][1000 genomes]
rs73255080	1.00[ASN][1000 genomes]
rs73264804	1.00[ASN][1000 genomes]
rs73269439	1.00[ASN][1000 genomes]
rs73900790	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8118198	1.00[ASN][1000 genomes]
rs9753755	1.00[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	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13977000-13986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:13977200-13984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:13977400-13983800	Weak transcription	Ovary	ovary
4	chr20:13977400-13985800	Weak transcription	Fetal Stomach	stomach
5	chr20:13977400-13996200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:13977600-13982800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:13977600-13986200	Weak transcription	Fetal Intestine Small	intestine
8	chr20:13978200-13991600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:13979000-13984400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr20:13980400-13981800	Enhancers	Stomach Mucosa	stomach

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