Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121798168..121800112-chr7:121805827..121808300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226636	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10236532	0.83[EUR][1000 genomes]
rs10242443	0.83[EUR][1000 genomes]
rs1158269	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11770803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771234	0.83[EUR][1000 genomes]
rs1443747	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875409	0.83[EUR][1000 genomes]
rs2268076	0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2270884	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs2302338	0.83[EUR][1000 genomes]
rs2840105	0.83[EUR][1000 genomes]
rs284366	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28665690	0.81[EUR][1000 genomes]
rs2896312	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533552	0.82[EUR][1000 genomes]
rs62472934	0.83[EUR][1000 genomes]
rs62474308	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62474309	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62474316	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6968699	0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs7787099	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12672571	TSPAN12	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121785800-121806400	Weak transcription	Pancreas	Pancrea
2	chr7:121797800-121811800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:121802000-121806400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:121802000-121806400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:121802000-121806400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:121802200-121807600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:121806200-121806400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:121806200-121806800	Enhancers	HMEC	breast
9	chr7:121806200-121806800	Enhancers	NH-A	brain
10	chr7:121806200-121806800	Enhancers	Osteobl	bone
11	chr7:121806200-121807400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:121806200-121807800	Enhancers	Hela-S3	cervix

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