Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120112775..120115205-chr11:120208059..120211030,2	K562	blood:
3	chr11:120106019..120110812-chr11:120113040..120119064,10	MCF-7	breast:
4	chr11:120112920..120116409-chr11:120169990..120174886,6	MCF-7	breast:
5	chr11:120111308..120114298-chr11:120159420..120161077,2	MCF-7	breast:
6	chr11:120111693..120114585-chr11:120155951..120157508,2	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1287393	0.92[EUR][1000 genomes]
rs1287395	0.87[EUR][1000 genomes]
rs17311233	1.00[AFR][1000 genomes]
rs2253006	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2444241	0.87[EUR][1000 genomes]
rs2444242	0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2444243	0.87[EUR][1000 genomes]
rs2508495	0.87[EUR][1000 genomes]
rs2508496	0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs2509623	0.83[CEU][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2845702	0.89[EUR][1000 genomes]
rs2845708	0.90[EUR][1000 genomes]
rs476809	0.87[EUR][1000 genomes]
rs477863	0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs489454	0.87[EUR][1000 genomes]
rs492275	0.87[EUR][1000 genomes]
rs513944	0.90[EUR][1000 genomes]
rs521841	0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs537907	0.87[EUR][1000 genomes]
rs540857	0.87[EUR][1000 genomes]
rs547990	0.87[EUR][1000 genomes]
rs896695	0.87[EUR][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120112000-120115400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:120112200-120115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120112600-120119600	Weak transcription	Esophagus	oesophagus
4	chr11:120114000-120114200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:120114000-120114200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:120114000-120114400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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