Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124314982..124317852-chr5:124324896..124327856,2	K562	blood:
2	chr5:124321759..124324073-chr5:124324469..124327599,3	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10067540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069295	1.00[ASN][1000 genomes]
rs10069495	1.00[ASN][1000 genomes]
rs10070651	1.00[ASN][1000 genomes]
rs10070961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071979	1.00[ASN][1000 genomes]
rs10072930	1.00[ASN][1000 genomes]
rs13169162	1.00[ASN][1000 genomes]
rs13359584	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28484892	1.00[ASN][1000 genomes]
rs28887500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56111606	1.00[ASN][1000 genomes]
rs57050857	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700802	1.00[ASN][1000 genomes]
rs6860106	1.00[ASN][1000 genomes]
rs6867459	1.00[ASN][1000 genomes]
rs6883243	1.00[ASN][1000 genomes]
rs6887240	1.00[ASN][1000 genomes]
rs72785245	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785247	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785252	1.00[ASN][1000 genomes]
rs73782570	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124319600-124332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:124323400-124348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124324000-124331200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:124326000-124327600	Enhancers	Fetal Intestine Small	intestine
5	chr5:124326600-124342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:124326800-124327400	Weak transcription	HMEC	breast

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