Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:46484746..46488003-chr3:46490448..46495431,4	K562	blood:
2	chr3:46489267..46491887-chr3:46498560..46500528,2	K562	blood:
3	chr3:46490434..46492807-chr3:46502824..46505311,2	MCF-7	breast:

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	0.99[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]
rs6441969	1.00[EUR][1000 genomes]
rs6798819	1.00[EUR][1000 genomes]
rs6801203	1.00[EUR][1000 genomes]
rs723577	1.00[EUR][1000 genomes]
rs73831107	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:46480200-46504000	Weak transcription	Lung	lung
4	chr3:46484800-46495000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:46486800-46490600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:46489200-46496800	Weak transcription	Adipose Nuclei	Adipose
7	chr3:46489400-46491600	Weak transcription	Left Ventricle	heart
8	chr3:46489400-46491800	Weak transcription	Right Ventricle	heart
9	chr3:46489400-46494800	Weak transcription	Pancreas	Pancrea
10	chr3:46489400-46504000	Weak transcription	Right Atrium	heart
11	chr3:46490200-46492600	Strong transcription	Spleen	Spleen
12	chr3:46490400-46490600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:46490400-46490600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:46490400-46490600	Genic enhancers	Gastric	stomach

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