Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119987020..119991053-chr11:120105932..120108438,3	K562	blood:
2	chr11:119988388..119990806-chr11:119992979..119995049,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10892536	1.00[EUR][1000 genomes]
rs10892542	0.86[AMR][1000 genomes]
rs11217677	1.00[EUR][1000 genomes]
rs11217683	1.00[EUR][1000 genomes]
rs11217684	1.00[EUR][1000 genomes]
rs11217685	1.00[EUR][1000 genomes]
rs11217690	1.00[EUR][1000 genomes]
rs11217691	1.00[EUR][1000 genomes]
rs11217692	1.00[EUR][1000 genomes]
rs11217694	1.00[EUR][1000 genomes]
rs11217696	0.86[AMR][1000 genomes]
rs11217697	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217699	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217701	0.91[ASN][1000 genomes]
rs11604169	0.86[AMR][1000 genomes]
rs12224041	0.91[ASN][1000 genomes]
rs12224472	0.87[ASN][1000 genomes]
rs12417601	0.86[AMR][1000 genomes]
rs12418174	1.00[EUR][1000 genomes]
rs12419706	1.00[EUR][1000 genomes]
rs12419830	0.91[ASN][1000 genomes]
rs12420985	0.80[ASN][1000 genomes]
rs12421654	0.86[AMR][1000 genomes]
rs2276159	0.86[AMR][1000 genomes]
rs2276160	1.00[EUR][1000 genomes]
rs3781667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824881	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824882	0.81[ASN][1000 genomes]
rs3896312	1.00[EUR][1000 genomes]
rs4938778	1.00[EUR][1000 genomes]
rs57144901	1.00[EUR][1000 genomes]
rs58043425	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61095798	1.00[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	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119981800-119991200	Strong transcription	HMEC	breast
2	chr11:119981800-119991400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:119982000-119990600	Strong transcription	Placenta	Placenta
4	chr11:119985400-119993000	Weak transcription	Right Atrium	heart
5	chr11:119985800-119991200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:119987400-119994400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:119987800-119992200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:119988400-119992000	Weak transcription	Fetal Thymus	thymus
9	chr11:119988800-119990000	Strong transcription	Hela-S3	cervix
10	chr11:119989000-119991400	Strong transcription	NHEK	skin
11	chr11:119989200-119992400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:119989400-119990200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:119989400-119992200	Genic enhancers	Esophagus	oesophagus
14	chr11:119989800-119991400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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