Variant report

Variant	rs2294723
Chromosome Location	chr1:171808405-171808406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171808145..171810484-chr1:171812590..171815013,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1015009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10436867	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10798687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798712	0.94[ASN][1000 genomes]
rs10913811	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579330	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11582287	0.81[ASN][1000 genomes]
rs11587288	0.94[MEX][hapmap]
rs12025368	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs12028585	0.90[ASN][1000 genomes]
rs12034454	0.83[MEX][hapmap]
rs12048200	0.93[ASN][1000 genomes]
rs1555384	0.90[ASN][1000 genomes]
rs2232812	0.82[MEX][hapmap]
rs2232816	0.83[MEX][hapmap]
rs2232818	0.83[MEX][hapmap]
rs2232826	0.83[MEX][hapmap]
rs2294724	0.91[ASN][1000 genomes]
rs3753538	0.83[MEX][hapmap]
rs6425438	0.81[MEX][hapmap]
rs6691222	0.82[CHB][hapmap]
rs6695502	0.94[MEX][hapmap]
rs72711798	0.90[ASN][1000 genomes]
rs72713710	0.94[ASN][1000 genomes]
rs72713711	0.94[ASN][1000 genomes]
rs7518914	0.81[CHB][hapmap]
rs7538839	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs7546406	0.94[ASN][1000 genomes]
rs7860	0.82[MEX][hapmap]

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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2294723	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL
rs2294723	DNM3	cis	cerebellum	SCAN
rs2294723	MYOC	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171796400-171809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:171796600-171810000	Weak transcription	Pancreas	Pancrea
3	chr1:171803000-171809800	Weak transcription	NHDF-Ad	bronchial
4	chr1:171804400-171810200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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