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:25)

rs_ID	r²[population]
rs17078863	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17078878	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17135	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2230895	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2239692	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2239693	0.90[AFR][1000 genomes]
rs2269436	0.81[AFR][1000 genomes]
rs2269444	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3796377	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4683227	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4683230	0.81[AMR][1000 genomes]
rs4683231	0.81[AMR][1000 genomes]
rs4683235	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59278682	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59952204	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6766188	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6774882	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6776245	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6776379	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6776621	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6781377	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72900268	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs743658	0.81[AFR][1000 genomes]
rs7629657	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7629770	0.85[AFR][1000 genomes];0.83[AMR][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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