Variant report

Variant	rs2097282
Chromosome Location	chr3:46378025-46378026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46377692..46380545-chr3:46391345..46393642,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1034382	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10865940	0.94[EUR][1000 genomes]
rs11130089	0.94[EUR][1000 genomes]
rs11711054	0.93[EUR][1000 genomes]
rs13081845	0.81[EUR][1000 genomes]
rs1799865	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2040389	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2040390	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2097283	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2097284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2157057	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2157059	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2213288	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2213291	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2213292	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2373226	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3092962	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3092963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3092964	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3138042	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34148191	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34193387	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34505903	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35053103	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35465430	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35675823	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35971655	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36030342	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3762823	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3918358	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3918359	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3918361	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4134396	0.86[EUR][1000 genomes]
rs4683198	0.84[EUR][1000 genomes]
rs62244827	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62244828	0.81[EUR][1000 genomes]
rs62244840	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62244848	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441953	0.84[EUR][1000 genomes]
rs6441961	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6441962	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6441963	0.80[ASN][1000 genomes]
rs6441964	0.91[EUR][1000 genomes]
rs6441968	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6441972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6765031	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6767895	0.94[EUR][1000 genomes]
rs6771900	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6775208	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6785878	0.82[EUR][1000 genomes]
rs6785981	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6788723	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6794300	0.93[EUR][1000 genomes]
rs6801761	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71615444	0.84[EUR][1000 genomes]
rs7372094	0.93[EUR][1000 genomes]
rs7374654	0.93[EUR][1000 genomes]
rs7374671	0.88[EUR][1000 genomes]
rs7626249	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs762789	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7634816	0.94[EUR][1000 genomes]
rs768539	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs963045	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9813756	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9818053	0.93[EUR][1000 genomes]
rs9852052	0.91[EUR][1000 genomes]
rs9856098	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9875668	0.93[EUR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46375800-46378200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:46376000-46380000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:46377400-46379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:46377600-46379000	Weak transcription	HMEC	breast
5	chr3:46377600-46379000	Weak transcription	NHEK	skin
6	chr3:46377600-46379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:46377600-46379200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:46378000-46378400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:46378000-46378400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:46378000-46378600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:46378000-46378600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:46378000-46378800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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