Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58871708..58873998-chr2:58879181..58880862,2	K562	blood:
2	chr2:58871707..58873924-chr2:58875799..58878057,2	K562	blood:

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

rs_ID	r²[population]
rs1014291	0.84[AFR][1000 genomes]
rs10196784	0.89[ASN][1000 genomes]
rs1030035	0.83[AFR][1000 genomes]
rs10865307	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1158041	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1159609	0.88[AFR][1000 genomes]
rs11682437	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11693731	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12463832	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13025286	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1861412	0.84[AFR][1000 genomes]
rs1861413	0.81[AFR][1000 genomes]
rs1922778	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1922779	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2019102	0.91[ASN][1000 genomes]
rs4672254	0.84[AFR][1000 genomes]
rs6745423	0.91[ASN][1000 genomes]
rs6759145	0.82[AFR][1000 genomes]
rs741310	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7572888	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7582485	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7591633	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	nsv1012213	chr2:58671881-58893730	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv535736	chr2:58671881-58893730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58859200-58875000	Weak transcription	Fetal Brain Male	brain
2	chr2:58866400-58879000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:58872400-58877800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:58872600-58875400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:58872600-58875400	Weak transcription	Fetal Brain Female	brain
6	chr2:58872600-58877600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:58872600-58879400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:58872800-58875400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:58873600-58879600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:58873800-58876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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