Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47921416..47925301-chr1:47925972..47930425,4	K562	blood:
2	chr1:47923815..47926431-chr1:47927655..47930925,3	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12070024	0.81[AMR][1000 genomes]
rs12090153	0.82[AMR][1000 genomes]
rs1316443	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1680018	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1680020	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2622909	0.83[AMR][1000 genomes]
rs2622917	0.83[AMR][1000 genomes]
rs2622920	0.82[AMR][1000 genomes]
rs2622921	0.82[AMR][1000 genomes]
rs2820971	0.83[AMR][1000 genomes]
rs2820974	0.82[AMR][1000 genomes]
rs505399	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs524158	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs538286	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs557851	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs571281	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61103903	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7526434	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7552140	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9436899	0.82[AMR][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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47922800-47926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:47923600-47926400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr1:47924200-47926400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr1:47924800-47926400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr1:47925000-47926400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:47925200-47926400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:47925400-47926400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr1:47925800-47926400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr1:47925800-47934200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:47926000-47926400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr1:47926200-47926400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:47926200-47926400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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