Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:169763531..169766205-chr2:169769452..169771867,3	K562	blood:
2	chr2:169757381..169760101-chr2:169762347..169764988,3	K562	blood:
3	chr2:169733481..169736243-chr2:169763377..169765605,2	K562	blood:
4	chr2:169757280..169761059-chr2:169762984..169765763,4	K562	blood:

Variant related genes	Relation type
ENSG00000152253	Chromatin interaction
ENSG00000152254	Chromatin interaction

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13387347	0.88[EUR][1000 genomes]
rs491443	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs519884	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs540524	0.88[ASN][1000 genomes]
rs567243	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs570876	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr2:169761400-169764400	Weak transcription	K562	blood
2	chr2:169762200-169765800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:169762400-169764800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:169762800-169765200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:169763200-169765200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:169763200-169765400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:169763400-169764400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:169763400-169764400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:169763400-169764600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:169763400-169764600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:169763400-169764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:169763400-169765400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:169763600-169766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:169763800-169764200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:169763800-169764400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:169763800-169766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:169764000-169764400	Enhancers	HMEC	breast
18	chr2:169764000-169764600	Enhancers	Spleen	Spleen
19	chr2:169764000-169764800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:169764000-169765000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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