Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46495712..46498114-chr3:46504861..46507290,2	K562	blood:

Variant related genes	Relation type
ENSG00000012223	Chromatin interaction

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11574431	1.00[EUR][1000 genomes]
rs11574437	1.00[EUR][1000 genomes]
rs11574440	1.00[EUR][1000 genomes]
rs11574441	1.00[EUR][1000 genomes]
rs11575814	1.00[EUR][1000 genomes]
rs11575817	1.00[EUR][1000 genomes]
rs11575818	1.00[EUR][1000 genomes]
rs11575822	1.00[EUR][1000 genomes]
rs12639258	1.00[ASN][1000 genomes]
rs13327723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141003	1.00[EUR][1000 genomes]
rs17141076	1.00[EUR][1000 genomes]
rs17842821	1.00[EUR][1000 genomes]
rs17842822	1.00[EUR][1000 genomes]
rs2373253	1.00[EUR][1000 genomes]
rs3136536	1.00[EUR][1000 genomes]
rs3176763	1.00[EUR][1000 genomes]
rs3181037	1.00[EUR][1000 genomes]
rs35212534	1.00[EUR][1000 genomes]
rs3918370	1.00[EUR][1000 genomes]
rs41495153	1.00[EUR][1000 genomes]
rs4637321	1.00[ASN][1000 genomes]
rs55951695	1.00[EUR][1000 genomes]
rs57761566	1.00[EUR][1000 genomes]
rs58966767	1.00[EUR][1000 genomes]
rs59283024	1.00[ASN][1000 genomes]
rs59998539	1.00[EUR][1000 genomes]
rs61737000	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441969	1.00[EUR][1000 genomes]
rs6798819	1.00[EUR][1000 genomes]
rs6801203	1.00[EUR][1000 genomes]
rs723577	1.00[EUR][1000 genomes]
rs7611447	1.00[EUR][1000 genomes]
rs7614209	1.00[EUR][1000 genomes]
rs7638702	1.00[EUR][1000 genomes]
rs7640084	1.00[EUR][1000 genomes]
rs7640708	1.00[EUR][1000 genomes]
rs7650273	1.00[EUR][1000 genomes]
rs7652954	1.00[EUR][1000 genomes]
rs9282632	1.00[EUR][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	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr3:46480200-46504000	Weak transcription	Lung	lung
2	chr3:46489400-46504000	Weak transcription	Right Atrium	heart
3	chr3:46492200-46501000	Weak transcription	Left Ventricle	heart
4	chr3:46492400-46501000	Weak transcription	Right Ventricle	heart
5	chr3:46494800-46497800	Strong transcription	Gastric	stomach
6	chr3:46494800-46498000	Strong transcription	Pancreas	Pancrea
7	chr3:46494800-46499000	Strong transcription	Spleen	Spleen
8	chr3:46496800-46497800	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:46496800-46498000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:46497000-46497600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:46497400-46497800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:46497400-46499800	Weak transcription	Adipose Nuclei	Adipose

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