Variant report

Variant	rs4673623
Chromosome Location	chr2:212454583-212454584
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212443336..212445425-chr2:212453184..212455748,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1009142	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10210942	0.86[ASN][1000 genomes]
rs10804199	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs10932386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679779	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11679860	0.94[ASN][1000 genomes]
rs11687988	0.94[ASN][1000 genomes]
rs11691078	0.96[ASN][1000 genomes]
rs11695852	0.98[ASN][1000 genomes]
rs12465773	0.84[ASN][1000 genomes]
rs12614500	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12619171	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs12694243	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694245	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1818751	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1829610	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1829611	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1965462	0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs1972142	1.00[JPT][hapmap]
rs1972143	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1976834	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2371303	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2371304	0.94[ASN][1000 genomes]
rs2371305	0.96[ASN][1000 genomes]
rs2888004	0.96[ASN][1000 genomes]
rs4488593	0.94[ASN][1000 genomes]
rs4599046	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.94[ASN][1000 genomes]
rs4640322	1.00[ASN][1000 genomes]
rs4672619	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4673624	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6721804	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6731454	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6746549	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7561282	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs7572669	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7586137	0.90[GIH][hapmap];0.86[TSI][hapmap]
rs7589006	0.81[TSI][hapmap]
rs7595207	1.00[ASN][1000 genomes]
rs7595223	1.00[ASN][1000 genomes]
rs7602757	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7602850	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9288434	0.82[ASN][1000 genomes]
rs9288435	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs939591	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv460069	chr2:212415948-212471642	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv584320	chr2:212415948-212471642	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv584321	chr2:212446818-212511895	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4673623	RBM26	trans	cerebellum	SCAN
rs4673623	CPS1IT1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212451200-212456200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:212452400-212466800	Weak transcription	Aorta	Aorta

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