Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21265670..21266461-chr2:21292907..21293760,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11127270	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11693870	0.91[ASN][1000 genomes]
rs12052779	0.84[ASN][1000 genomes]
rs12468735	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1367113	0.91[ASN][1000 genomes]
rs1713223	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs1897083	0.93[ASN][1000 genomes]
rs412255	0.80[CHB][hapmap]
rs427095	0.80[CHB][hapmap]
rs430872	0.80[CHB][hapmap]
rs454826	0.80[CHB][hapmap]
rs4665178	0.89[ASN][1000 genomes]
rs4665179	0.89[ASN][1000 genomes]
rs512535	0.81[CEU][hapmap]
rs56079819	0.92[ASN][1000 genomes]
rs563476	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs565202	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs571468	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588245	0.85[CEU][hapmap]
rs61539677	0.93[ASN][1000 genomes]
rs62122515	0.95[ASN][1000 genomes]
rs62122516	0.95[ASN][1000 genomes]
rs62122520	0.90[ASN][1000 genomes]
rs634292	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs664894	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs666126	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs675430	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs754523	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs594677	SF3B14	cis	cerebellum	SCAN
rs594677	APOB	cis	Adipose Subcutaneous	GTEx
rs594677	MSGN1	cis	cerebellum	SCAN
rs594677	ATAD2B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21290000-21293600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:21291600-21293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:21292600-21294400	Enhancers	Fetal Intestine Large	intestine
4	chr2:21292600-21295200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:21292800-21293800	Enhancers	Liver	Liver
6	chr2:21292800-21294400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:21292800-21294400	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:21292800-21294400	Enhancers	Fetal Intestine Small	intestine
9	chr2:21292800-21294400	Enhancers	HUVEC	blood vessel
10	chr2:21292800-21294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:21292800-21294600	Flanking Active TSS	HepG2	liver
12	chr2:21293000-21293200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:21293000-21293800	Enhancers	H9 Cell Line	embryonic stem cell

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