Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:80015966-80018036	SK-N-SH	brain:	n/a	chr7:80017403-80017417 chr7:80016443-80016457 chr7:80016000-80016014

Variant related genes	Relation type
ENSG00000232667	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10262955	0.91[ASN][1000 genomes]
rs10264032	0.86[ASN][1000 genomes]
rs10269308	0.90[ASN][1000 genomes]
rs12667354	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12667590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13234446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17153688	1.00[AFR][1000 genomes]
rs17153795	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17547287	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2906199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs304738	0.85[ASN][1000 genomes]
rs304742	0.86[ASN][1000 genomes]
rs304754	0.83[ASN][1000 genomes]
rs304766	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs304784	1.00[ASN][1000 genomes]
rs304785	1.00[ASN][1000 genomes]
rs304797	0.82[ASN][1000 genomes]
rs304801	0.82[ASN][1000 genomes]
rs4636124	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4731338	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4731345	1.00[AFR][1000 genomes]
rs57803210	0.90[ASN][1000 genomes]
rs58665903	0.81[ASN][1000 genomes]
rs6467133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6467134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs726458	0.90[ASN][1000 genomes]
rs7792158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80009200-80017200	Weak transcription	Fetal Kidney	kidney
2	chr7:80009400-80017000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:80012800-80016800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:80014200-80016400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:80014400-80017400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:80015000-80016200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:80015200-80016200	Weak transcription	Liver	Liver
8	chr7:80015200-80016200	Weak transcription	HMEC	breast
9	chr7:80015200-80016800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:80015400-80017200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:80015800-80017000	Weak transcription	A549	lung
12	chr7:80015800-80022000	Weak transcription	HepG2	liver

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