Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30249644..30251920-chr13:30269289..30271724,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1023162	0.97[ASN][1000 genomes]
rs1023163	0.96[ASN][1000 genomes]
rs1093774	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1093780	0.83[EUR][1000 genomes]
rs12428341	0.93[ASN][1000 genomes]
rs2137398	0.83[EUR][1000 genomes]
rs2388240	0.86[ASN][1000 genomes]
rs2388243	0.81[ASN][1000 genomes]
rs2669033	0.90[ASN][1000 genomes]
rs280920	0.96[ASN][1000 genomes]
rs280921	0.96[ASN][1000 genomes]
rs280948	0.93[ASN][1000 genomes]
rs280957	0.97[ASN][1000 genomes]
rs280958	0.97[ASN][1000 genomes]
rs280959	1.00[ASN][1000 genomes]
rs280960	0.97[ASN][1000 genomes]
rs35803474	0.86[ASN][1000 genomes]
rs515839	0.83[EUR][1000 genomes]
rs542930	0.93[ASN][1000 genomes]
rs547522	0.90[ASN][1000 genomes]
rs563819	0.96[ASN][1000 genomes]
rs566688	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626702	0.83[EUR][1000 genomes]
rs819102	0.96[ASN][1000 genomes]
rs819107	0.83[EUR][1000 genomes]
rs943564	0.86[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	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30248600-30252200	Enhancers	NHDF-Ad	bronchial
2	chr13:30248800-30250600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:30249000-30251000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:30249200-30250600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:30249200-30250800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:30249600-30250600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:30249600-30252000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:30249800-30250600	Weak transcription	NH-A	brain
9	chr13:30249800-30250800	Enhancers	HMEC	breast
10	chr13:30249800-30252000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:30249800-30252000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:30249800-30252000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:30249800-30252800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:30250000-30256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:30250200-30250600	Weak transcription	Esophagus	oesophagus
16	chr13:30250200-30250600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:30250200-30250600	Weak transcription	Hela-S3	cervix
18	chr13:30250200-30250600	Enhancers	NHEK	skin

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