Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22725796..22727979-chr20:22752772..22755655,2	K562	blood:
2	chr20:22751785..22755071-chr20:22774743..22777587,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16984411	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56896182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57154892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58242823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59207044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60445726	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61540052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7261797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7266128	0.85[AFR][1000 genomes];1.00[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	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv528221	chr20:22732749-22767280	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv979482	chr20:22751722-22766987	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22746000-22756000	Weak transcription	Spleen	Spleen
2	chr20:22751400-22755400	Weak transcription	Hela-S3	cervix
3	chr20:22752400-22756200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:22752800-22755600	Weak transcription	HSMMtube	muscle
5	chr20:22753400-22756800	Weak transcription	Aorta	Aorta
6	chr20:22753600-22757600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:22754000-22756000	Enhancers	NHEK	skin
8	chr20:22754000-22757200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:22754000-22757800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:22754000-22757800	Enhancers	HMEC	breast
11	chr20:22754200-22756800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:22754400-22758000	Enhancers	Placenta	Placenta
13	chr20:22754600-22755600	Enhancers	A549	lung
14	chr20:22754600-22756000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:22754600-22756000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:22754600-22756200	Weak transcription	HUVEC	blood vessel
17	chr20:22754600-22757600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:22754800-22755600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:22754800-22757400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:22755000-22756000	Enhancers	HSMM	muscle

Quick Search: