Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5229334..5231463-chr5:5421159..5423647,2	K562	blood:

Variant related genes	Relation type
ENSG00000164151	Chromatin interaction

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

rs_ID	r²[population]
rs13154760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160241	1.00[AMR][1000 genomes]
rs13170085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171408	1.00[AMR][1000 genomes]
rs13174653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13174795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175798	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13185530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33999304	1.00[ASN][1000 genomes]
rs34035610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34067677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34149058	1.00[AMR][1000 genomes]
rs34560005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595042	1.00[AMR][1000 genomes]
rs34662621	1.00[AMR][1000 genomes]
rs34901924	1.00[AMR][1000 genomes]
rs35630763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35643140	1.00[AMR][1000 genomes]
rs35680269	1.00[AMR][1000 genomes]
rs36037750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71596744	1.00[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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5199000-5240000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:5202600-5240200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:5221400-5237200	Weak transcription	Ovary	ovary
6	chr5:5221600-5242200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:5222200-5244000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:5224200-5239000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:5224400-5253800	Weak transcription	Fetal Kidney	kidney
10	chr5:5225000-5239000	Weak transcription	NH-A	brain
11	chr5:5229400-5230400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr5:5229600-5230200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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