Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71364456..71366869-chr16:71370334..71373194,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221237	Chromatin interaction

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

rs_ID	r²[population]
rs1007634	0.95[CEU][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1018910	1.00[JPT][hapmap]
rs12445640	0.80[AFR][1000 genomes]
rs12708909	1.00[JPT][hapmap]
rs12708910	1.00[JPT][hapmap]
rs12708911	1.00[JPT][hapmap]
rs12919927	0.83[ASN][1000 genomes]
rs12933065	0.86[EUR][1000 genomes]
rs1424141	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009763	0.93[JPT][hapmap]
rs3803704	0.81[ASW][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap]
rs4630548	0.80[YRI][hapmap]
rs4788787	1.00[JPT][hapmap]
rs7187450	1.00[JPT][hapmap]
rs7195330	0.93[ASW][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap]
rs7201920	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8049333	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8054321	0.84[GIH][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs918755	0.87[AFR][1000 genomes]
rs9928675	0.92[JPT][hapmap]
rs9936354	1.00[JPT][hapmap]

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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv572949	chr16:71352071-71426563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs713532	FHOD1	cis	cerebellum	SCAN
rs713532	TPPP3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71371400-71374400	Enhancers	HMEC	breast
2	chr16:71371400-71374400	Enhancers	NHEK	skin
3	chr16:71371600-71372200	Enhancers	Esophagus	oesophagus
4	chr16:71371600-71372400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:71371600-71372800	Enhancers	Hela-S3	cervix
6	chr16:71371600-71373600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:71371600-71374000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:71371600-71374600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:71371800-71372000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:71371800-71372200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:71371800-71372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr16:71371800-71372400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:71371800-71373200	Enhancers	HepG2	liver
14	chr16:71371800-71373600	Enhancers	A549	lung

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