Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:143993420..143996184-chr6:143997864..144000506,3	MCF-7	breast:
2	chr6:143993920..143996702-chr6:144021547..144023983,2	MCF-7	breast:
3	chr6:143993282..143995063-chr6:144073784..144075986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112419	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11155313	0.84[EUR][1000 genomes]
rs11155314	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11755709	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192231	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12195857	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12196077	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12196139	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12197559	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12200809	0.80[AMR][1000 genomes]
rs12200984	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12209146	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12209438	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12211387	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13193972	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13194278	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213864	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13219740	0.87[AMR][1000 genomes]
rs1338534	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6914096	0.90[EUR][1000 genomes]
rs7744358	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760627	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760733	0.99[EUR][1000 genomes]
rs9484792	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143980800-143994200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:143981800-143994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:143991400-143994200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:143993400-143995600	Weak transcription	Aorta	Aorta
5	chr6:143993600-143994200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:143993600-143994400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:143993600-143994600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr6:143993600-143996400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:143993600-143996800	Enhancers	Placenta	Placenta
10	chr6:143994000-143994200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:143994000-143994200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:143994000-143994200	Enhancers	A549	lung
13	chr6:143994000-143994200	Enhancers	NHEK	skin
14	chr6:143994000-143994400	Enhancers	Esophagus	oesophagus
15	chr6:143994000-143994600	Enhancers	HUVEC	blood vessel
16	chr6:143994000-143996200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:143994000-143997800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:143994000-143998800	Enhancers	Hela-S3	cervix

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