Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:58868791..58870699-chr2:58870804..58872646,2	MCF-7	breast:
2	chr2:58871708..58873998-chr2:58879181..58880862,2	K562	blood:
3	chr2:58871707..58873924-chr2:58875799..58878057,2	K562	blood:
4	chr2:58863044..58865582-chr2:58870995..58873370,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1014291	0.81[AFR][1000 genomes]
rs1014585	0.80[EUR][1000 genomes]
rs10196784	0.91[ASN][1000 genomes]
rs1030035	0.90[AFR][1000 genomes]
rs10865307	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1158041	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1159609	0.81[AFR][1000 genomes]
rs11682437	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11693731	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1922778	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1922779	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2019102	0.92[ASN][1000 genomes]
rs6745423	0.92[ASN][1000 genomes]
rs741310	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561534	0.83[AFR][1000 genomes]
rs7572888	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7582485	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586515	0.81[AFR][1000 genomes]
rs7598875	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7591633	SPTBN1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58859200-58875000	Weak transcription	Fetal Brain Male	brain
2	chr2:58866200-58872200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:58866400-58872200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:58866400-58879000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:58868600-58872200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:58871400-58872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:58871800-58872800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:58872000-58872400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:58872000-58872400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:58872000-58872400	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:58872000-58872400	Enhancers	K562	blood
12	chr2:58872000-58872600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:58872000-58872600	Enhancers	Fetal Brain Female	brain

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