Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45387873..45391350-chr6:45642901..45646664,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10948245	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10948246	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10948248	0.82[EUR][1000 genomes]
rs12524499	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1388243	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16873629	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28579170	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4714863	0.89[EUR][1000 genomes]
rs73735437	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73735442	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7752609	0.89[EUR][1000 genomes]
rs9349323	0.89[EUR][1000 genomes]
rs9357490	0.81[EUR][1000 genomes]
rs9369568	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9369569	0.89[EUR][1000 genomes]
rs9381392	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45631800-45645000	Weak transcription	Colonic Mucosa	Colon
2	chr6:45632000-45643400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:45632600-45643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:45634200-45645200	Weak transcription	Right Atrium	heart
5	chr6:45635000-45644800	Weak transcription	NHLF	lung
6	chr6:45635600-45644200	Weak transcription	HSMM	muscle
7	chr6:45635600-45644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:45635800-45643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:45642200-45646400	Enhancers	Fetal Thymus	thymus
10	chr6:45642800-45643000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:45642800-45643000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:45642800-45643000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:45642800-45643000	Enhancers	NHEK	skin
14	chr6:45642800-45643200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:45642800-45643200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:45642800-45643200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:45642800-45643200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr6:45642800-45643200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:45642800-45643200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:45642800-45643200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:45642800-45643200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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