Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54999349..55001528-chr2:55002903..55005507,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11678461	0.96[ASN][1000 genomes]
rs11683128	0.95[ASN][1000 genomes]
rs11690558	0.84[ASN][1000 genomes]
rs11691922	0.91[ASN][1000 genomes]
rs11891165	0.89[ASN][1000 genomes]
rs11897031	0.84[ASN][1000 genomes]
rs11899655	0.99[ASN][1000 genomes]
rs11901245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613164	0.96[ASN][1000 genomes]
rs12622172	0.87[ASN][1000 genomes]
rs17046310	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17046312	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17521852	0.95[ASN][1000 genomes]
rs35559436	0.96[ASN][1000 genomes]
rs56320255	0.91[ASN][1000 genomes]
rs58350716	0.97[ASN][1000 genomes]
rs6709473	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6713115	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6761960	0.97[ASN][1000 genomes]
rs72915588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917512	0.94[ASN][1000 genomes]
rs72917514	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844855	chr2:54987215-55012202	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:54997400-55000600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:54997400-55000800	Enhancers	HSMMtube	muscle
3	chr2:54997600-55000600	Enhancers	HSMM	muscle
4	chr2:54997600-55000800	Enhancers	HMEC	breast
5	chr2:54997600-55001400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:54997800-55000600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:54997800-55000600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:54997800-55000600	Enhancers	NHDF-Ad	bronchial
9	chr2:54998000-55000600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:54998400-55000600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:54999200-55000600	Enhancers	Stomach Mucosa	stomach
12	chr2:54999800-55000600	Enhancers	Gastric	stomach
13	chr2:55000200-55000600	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:55000200-55000600	Enhancers	NHEK	skin

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