Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:102708220..102712161-chr7:102714525..102717019,5	K562	blood:
2	chr7:102668956..102671176-chr7:102710132..102712664,2	K562	blood:
3	chr7:102704633..102706824-chr7:102709048..102710835,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10808120	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11768949	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11770319	0.81[ASN][1000 genomes]
rs11972261	0.82[ASN][1000 genomes]
rs11976237	0.84[ASN][1000 genomes]
rs12666317	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13221585	0.92[ASN][1000 genomes]
rs13222980	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13232194	0.80[ASN][1000 genomes]
rs1829957	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2222539	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2298854	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4609128	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4729860	0.80[ASN][1000 genomes]
rs4729866	0.92[ASN][1000 genomes]
rs4729873	0.88[ASN][1000 genomes]
rs6978630	0.86[ASN][1000 genomes]
rs7458786	0.88[ASN][1000 genomes]
rs7780405	0.93[ASN][1000 genomes]
rs7807055	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs952879	0.87[EUR][1000 genomes];0.88[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	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh 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
4	nsv981564	chr7:102704804-102712972	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102679200-102713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:102692800-102712800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:102702200-102713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102702200-102714600	Weak transcription	Ovary	ovary
5	chr7:102706800-102714000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:102709000-102714200	Weak transcription	Fetal Lung	lung
7	chr7:102710200-102711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:102710200-102713800	Weak transcription	Pancreas	Pancrea
9	chr7:102710200-102714400	Weak transcription	Brain Angular Gyrus	brain

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