Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22991807..22995756-chr20:23027897..23031739,4	MCF-7	breast:
2	chr20:22983134..22985232-chr20:22993817..22995557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1211376	0.86[ASN][1000 genomes]
rs1360405	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1360406	0.86[ASN][1000 genomes]
rs1360407	0.86[ASN][1000 genomes]
rs1360409	0.86[ASN][1000 genomes]
rs1431678	0.84[ASN][1000 genomes]
rs2092634	0.81[AMR][1000 genomes]
rs2092635	0.81[AMR][1000 genomes]
rs2092636	0.81[AMR][1000 genomes]
rs2103760	0.81[AMR][1000 genomes]
rs220987	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs220988	0.88[CHB][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs220989	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs2235953	0.88[CHB][hapmap]
rs2258208	0.82[ASN][1000 genomes]
rs2424498	0.86[ASN][1000 genomes]
rs2424499	0.86[ASN][1000 genomes]
rs2424500	0.86[ASN][1000 genomes]
rs2424501	0.86[ASN][1000 genomes]
rs2746620	0.83[AMR][1000 genomes]
rs4815170	0.86[ASN][1000 genomes]
rs58357425	0.94[ASN][1000 genomes]
rs61056253	0.84[ASN][1000 genomes]
rs6106592	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73608985	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22988400-22995600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:22991000-22995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:22991000-22995600	Weak transcription	Dnd41	blood
4	chr20:22991200-23002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr20:22993200-22994400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:22993600-22994400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:22993600-22994400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:22993600-22994400	Enhancers	Adipose Nuclei	Adipose
9	chr20:22993600-22994400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr20:22993600-22994600	Enhancers	Left Ventricle	heart
11	chr20:22993600-22994600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr20:22993800-22994600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:22994000-22994200	Enhancers	HSMMtube	muscle
14	chr20:22994000-22994400	Flanking Active TSS	A549	lung
15	chr20:22994000-22994400	Enhancers	NHEK	skin
16	chr20:22994000-22994600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:22994000-22994600	Enhancers	HMEC	breast

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