Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129141250..129143195-chr7:129161388..129164480,3	MCF-7	breast:
2	chr7:129134009..129135699-chr7:129162425..129164276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240204	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1248449	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13225736	0.95[AMR][1000 genomes]
rs1665086	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1668478	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2012492	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4728166	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4731586	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs592034	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs605030	0.90[AFR][1000 genomes]
rs634484	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs635651	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs664794	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs665316	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs682434	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs683778	0.82[AFR][1000 genomes]
rs684190	0.83[AFR][1000 genomes]
rs690864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs690898	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs691193	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6977678	0.95[AFR][1000 genomes];0.82[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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 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	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129152000-129162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129157200-129162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:129160000-129163000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:129161800-129162600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr7:129161800-129163000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:129162000-129162600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:129162000-129162800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:129162000-129163000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:129162000-129163000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:129162200-129172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:129162400-129162600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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