Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22770829..22772880-chr20:22773883..22775760,2	MCF-7	breast:
2	chr20:22772678..22773287-chr20:46083527..46084295,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1761	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2092660	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2143902	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2179856	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2179859	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404493	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424461	0.92[EUR][1000 genomes]
rs2424464	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2424465	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2424466	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2424468	0.95[EUR][1000 genomes]
rs2424469	0.95[EUR][1000 genomes]
rs2424470	0.95[EUR][1000 genomes]
rs2424473	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424475	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424476	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331580	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4516506	0.95[EUR][1000 genomes]
rs4815144	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6075947	0.94[EUR][1000 genomes]
rs6075948	0.95[EUR][1000 genomes]
rs6082814	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6113803	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22770400-22775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:22770600-22775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22771000-22774200	Weak transcription	Aorta	Aorta
4	chr20:22771000-22774200	Weak transcription	Fetal Muscle Leg	muscle
5	chr20:22771000-22775400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:22771000-22776000	Weak transcription	Ovary	ovary
7	chr20:22772000-22773000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr20:22772000-22773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:22772000-22773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:22772000-22773200	Enhancers	A549	lung
11	chr20:22772000-22778600	Enhancers	HMEC	breast
12	chr20:22772200-22773200	Enhancers	NHEK	skin
13	chr20:22772200-22777400	Enhancers	Placenta	Placenta
14	chr20:22772400-22773000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:22772600-22773000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr20:22772600-22773200	Enhancers	Right Atrium	heart
17	chr20:22772800-22773000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr20:22772800-22775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search: