Variant report

Variant	rs10247759
Chromosome Location	chr6:54366867-54366868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10215501	1.00[ASN][1000 genomes]
rs10216223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216230	1.00[ASN][1000 genomes]
rs10234058	0.94[ASN][1000 genomes]
rs10242871	0.94[ASN][1000 genomes]
rs10249701	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10253054	0.88[ASN][1000 genomes]
rs10261844	0.88[ASN][1000 genomes]
rs10265582	0.91[ASN][1000 genomes]
rs10271752	0.83[EUR][1000 genomes]
rs10273060	0.97[ASN][1000 genomes]
rs10280638	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10280916	0.85[ASN][1000 genomes]
rs1227158	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1227168	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1227171	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1227172	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1227174	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1227176	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1227177	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1227178	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1227181	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1227183	0.82[EUR][1000 genomes]
rs1227190	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1238698	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1614000	0.91[ASN][1000 genomes]
rs1615468	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1718955	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1718957	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1718969	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1796491	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1796492	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1796493	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1796516	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1922907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028028	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2457	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2905274	0.88[ASN][1000 genomes]
rs4490768	0.91[ASN][1000 genomes]
rs56113805	0.94[ASN][1000 genomes]
rs56376790	0.88[ASN][1000 genomes]
rs62475004	0.82[ASN][1000 genomes]
rs6466419	0.97[ASN][1000 genomes]
rs6466421	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6945635	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6946335	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6950318	0.86[ASN][1000 genomes]
rs6955834	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6970266	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777973	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7778135	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7780098	0.83[ASN][1000 genomes]
rs7789772	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7803405	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9649356	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9655816	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv427757	chr6:54296552-54507210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv970682	chr6:54325591-54375255	Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv885889	chr6:54339930-54458991	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv885890	chr6:54339930-54460646	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv885891	chr6:54344853-54425876	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv885892	chr6:54344853-54458991	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv885893	chr6:54344853-54460646	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv885894	chr6:54350048-54452797	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv885895	chr6:54350048-54456869	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv885896	chr6:54350048-54458991	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv885897	chr6:54350048-54460646	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 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	chr6:54361600-54391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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