Variant report

Variant	rs3122323
Chromosome Location	chr1:92677976-92677977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10875209	1.00[JPT][hapmap]
rs10875319	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10875349	0.89[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11164288	0.92[CEU][hapmap];0.89[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs11164349	0.82[EUR][1000 genomes]
rs1157469	0.86[GIH][hapmap]
rs11585255	1.00[JPT][hapmap]
rs11803457	0.84[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs12086394	0.80[EUR][1000 genomes]
rs1483022	0.89[GIH][hapmap]
rs1487536	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs1487540	0.94[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1542685	0.96[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1872007	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2046620	0.96[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2087194	0.94[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2093879	0.83[GIH][hapmap]
rs2128645	1.00[JPT][hapmap]
rs2391161	0.84[EUR][1000 genomes]
rs2893200	0.86[GIH][hapmap]
rs3103170	0.86[EUR][1000 genomes]
rs3103176	0.94[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3103178	0.92[CEU][hapmap];0.89[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs3103181	0.96[CEU][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3122321	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3122327	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3131813	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3131814	0.84[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3131820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs3131827	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3131828	0.96[CEU][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3929737	0.82[EUR][1000 genomes]
rs4393167	0.82[EUR][1000 genomes]
rs4658289	1.00[JPT][hapmap]
rs4658300	0.96[CEU][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs6603962	0.84[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs6604082	0.89[GIH][hapmap]
rs6604088	0.81[EUR][1000 genomes]
rs6604090	0.94[ASW][hapmap];0.96[CEU][hapmap];0.86[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6661384	0.83[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6663114	0.80[EUR][1000 genomes]
rs6663278	0.96[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6668803	0.92[CEU][hapmap];0.89[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs6689366	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6692287	0.82[EUR][1000 genomes]
rs6702267	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs733012	0.81[EUR][1000 genomes]
rs745793	0.81[EUR][1000 genomes]
rs7517541	0.92[CEU][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs7518974	0.82[EUR][1000 genomes]
rs7520275	0.96[CEU][hapmap];0.89[GIH][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.84[EUR][1000 genomes]
rs7543947	0.84[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs912794	0.81[EUR][1000 genomes]
rs9440085	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92677800-92678600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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