Variant report

Variant	rs2683676
Chromosome Location	chr2:67739146-67739147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67686874..67688918-chr2:67738325..67740744,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10207998	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1023691	1.00[ASN][1000 genomes]
rs1023693	1.00[ASN][1000 genomes]
rs11126134	1.00[ASN][1000 genomes]
rs11126138	1.00[ASN][1000 genomes]
rs11900280	1.00[ASN][1000 genomes]
rs12998432	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998660	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016594	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022809	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430789	1.00[ASN][1000 genomes]
rs1430790	1.00[ASN][1000 genomes]
rs1430791	1.00[ASN][1000 genomes]
rs1430792	1.00[ASN][1000 genomes]
rs1521050	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521052	0.89[EUR][1000 genomes]
rs1568469	0.91[EUR][1000 genomes]
rs17033691	1.00[ASN][1000 genomes]
rs2541015	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541028	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541030	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541031	0.91[EUR][1000 genomes]
rs2541034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683682	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683683	1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2861640	1.00[ASN][1000 genomes]
rs2861644	1.00[ASN][1000 genomes]
rs2861645	1.00[ASN][1000 genomes]
rs2861648	1.00[ASN][1000 genomes]
rs2861681	1.00[ASN][1000 genomes]
rs2861686	1.00[ASN][1000 genomes]
rs2861687	1.00[ASN][1000 genomes]
rs2861689	1.00[ASN][1000 genomes]
rs2861698	1.00[ASN][1000 genomes]
rs2861700	1.00[ASN][1000 genomes]
rs2861701	1.00[ASN][1000 genomes]
rs2861703	1.00[ASN][1000 genomes]
rs2902007	1.00[ASN][1000 genomes]
rs2902008	1.00[ASN][1000 genomes]
rs2902023	1.00[ASN][1000 genomes]
rs2902025	1.00[ASN][1000 genomes]
rs35250398	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260227	1.00[ASN][1000 genomes]
rs4362541	1.00[ASN][1000 genomes]
rs4381768	1.00[ASN][1000 genomes]
rs4533457	1.00[ASN][1000 genomes]
rs4671806	1.00[ASN][1000 genomes]
rs4671811	1.00[ASN][1000 genomes]
rs4671812	1.00[ASN][1000 genomes]
rs4671813	1.00[ASN][1000 genomes]
rs4671817	1.00[ASN][1000 genomes]
rs6546317	1.00[ASN][1000 genomes]
rs6546318	1.00[ASN][1000 genomes]
rs6546320	1.00[ASN][1000 genomes]
rs6546322	1.00[ASN][1000 genomes]
rs6717863	1.00[ASN][1000 genomes]
rs6724133	1.00[ASN][1000 genomes]
rs6730286	1.00[ASN][1000 genomes]
rs6746394	1.00[ASN][1000 genomes]
rs6752799	1.00[ASN][1000 genomes]
rs7425711	1.00[ASN][1000 genomes]
rs7569813	1.00[ASN][1000 genomes]
rs7595894	1.00[ASN][1000 genomes]
rs7598280	1.00[ASN][1000 genomes]
rs9309402	1.00[ASN][1000 genomes]
rs980227	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2683676	VAX2	cis	parietal	SCAN
rs2683676	ANTXR1	cis	parietal	SCAN
rs2683676	CEP68	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67728200-67742800	Weak transcription	Fetal Lung	lung
2	chr2:67731200-67741400	Weak transcription	NHDF-Ad	bronchial
3	chr2:67737200-67739600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:67738200-67741400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:67738200-67741600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:67738400-67742600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:67738800-67741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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