Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120005182..120006747-chr11:120015813..120018578,2	K562	blood:
2	chr11:120011323..120013306-chr11:120017125..120019981,3	MCF-7	breast:

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

rs_ID	r²[population]
rs2444240	0.93[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2847499	1.00[ASW][hapmap]
rs470370	0.87[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs470373	0.90[ASN][1000 genomes]
rs470645	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs470725	0.82[ASN][1000 genomes]
rs470876	0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs470941	0.93[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs488672	0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4938790	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs521556	0.88[ASN][1000 genomes]
rs528147	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs529657	0.88[ASN][1000 genomes]
rs529681	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs531260	0.85[ASN][1000 genomes]
rs533636	0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs550164	0.93[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs561498	0.93[JPT][hapmap]
rs566935	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs573211	0.85[ASN][1000 genomes]
rs605374	0.93[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs670855	0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs896691	0.84[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120007200-120021400	Weak transcription	Right Atrium	heart
2	chr11:120016200-120018200	Enhancers	Esophagus	oesophagus
3	chr11:120017600-120019800	Enhancers	HMEC	breast
4	chr11:120017800-120018200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:120017800-120019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:120017800-120020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:120018000-120018600	Enhancers	Pancreas	Pancrea
8	chr11:120018000-120019000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:120018000-120019000	Bivalent Enhancer	NHEK	skin
10	chr11:120018000-120019200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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