Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74746733..74749613-chr4:74751019..74753569,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10015585	0.90[ASN][1000 genomes]
rs10018168	0.90[ASN][1000 genomes]
rs10025248	0.83[ASN][1000 genomes]
rs10027146	0.90[ASN][1000 genomes]
rs10029181	0.90[ASN][1000 genomes]
rs1429639	0.90[ASN][1000 genomes]
rs1957068	0.90[ASN][1000 genomes]
rs28397682	0.90[ASN][1000 genomes]
rs28433328	0.90[ASN][1000 genomes]
rs28439247	0.90[ASN][1000 genomes]
rs28450339	0.90[ASN][1000 genomes]
rs28530514	0.87[ASN][1000 genomes]
rs28570454	0.90[ASN][1000 genomes]
rs28588653	0.82[ASN][1000 genomes]
rs28635878	0.90[ASN][1000 genomes]
rs28729473	0.87[ASN][1000 genomes]
rs28736496	0.90[ASN][1000 genomes]
rs58838861	0.82[ASN][1000 genomes]
rs60351616	0.90[ASN][1000 genomes]
rs61709120	0.87[ASN][1000 genomes]
rs6816849	0.90[ASN][1000 genomes]
rs6817745	0.90[ASN][1000 genomes]
rs73828896	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73830317	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73830318	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73830319	0.90[ASN][1000 genomes]
rs73830339	0.85[AFR][1000 genomes]
rs73830354	0.85[AFR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74736800-74749000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74746800-74748800	Weak transcription	NHEK	skin
3	chr4:74747000-74748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:74747000-74749000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:74747600-74752200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:74747800-74749600	Enhancers	NHDF-Ad	bronchial
7	chr4:74748200-74749800	Enhancers	Dnd41	blood
8	chr4:74748200-74752000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:74748600-74749200	Enhancers	GM12878-XiMat	blood
10	chr4:74748600-74749400	Enhancers	HUVEC	blood vessel
11	chr4:74748600-74749400	Enhancers	NHLF	lung
12	chr4:74748600-74749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:74748600-74749600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:74748600-74749600	Enhancers	Osteobl	bone
15	chr4:74748600-74749800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:74748600-74750000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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