Variant report

Variant	rs12718273
Chromosome Location	chr7:48478602-48478603
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12718264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12718265	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12718275	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12718276	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12718287	0.91[AMR][1000 genomes]
rs13221147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13226837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13235315	0.91[AMR][1000 genomes]
rs13238320	1.00[AFR][1000 genomes]
rs13239031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240229	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13244050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527836	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17132435	0.87[EUR][1000 genomes]
rs17132437	0.87[EUR][1000 genomes]
rs17132446	0.84[AMR][1000 genomes]
rs34096705	0.87[EUR][1000 genomes]
rs34364517	0.87[EUR][1000 genomes]
rs34449910	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34488148	1.00[AFR][1000 genomes]
rs34508623	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34527719	0.87[EUR][1000 genomes]
rs34544554	0.87[EUR][1000 genomes]
rs34611305	0.87[EUR][1000 genomes]
rs34651672	0.87[EUR][1000 genomes]
rs34652761	0.95[EUR][1000 genomes]
rs34768692	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34798730	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35072701	0.91[AMR][1000 genomes]
rs35099077	0.87[EUR][1000 genomes]
rs35108065	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35265841	1.00[AFR][1000 genomes]
rs35356824	1.00[AFR][1000 genomes]
rs35425284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35457699	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35512908	0.84[EUR][1000 genomes]
rs35600681	0.87[EUR][1000 genomes]
rs35603493	0.87[EUR][1000 genomes]
rs35825254	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35915440	0.87[EUR][1000 genomes]
rs35952216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35987825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55836959	0.87[EUR][1000 genomes]
rs58511932	0.87[EUR][1000 genomes]
rs58707711	0.95[EUR][1000 genomes]
rs61378229	0.87[EUR][1000 genomes]
rs61705907	0.87[EUR][1000 genomes]
rs62447286	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62447291	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62447294	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62447295	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62447308	0.87[EUR][1000 genomes]
rs62447309	0.87[EUR][1000 genomes]
rs62447313	0.87[EUR][1000 genomes]
rs62447314	0.87[EUR][1000 genomes]
rs62447315	0.87[EUR][1000 genomes]
rs62447317	0.87[EUR][1000 genomes]
rs62447319	0.87[EUR][1000 genomes]
rs62447326	0.91[AMR][1000 genomes]
rs62449224	1.00[AFR][1000 genomes]
rs62449235	1.00[AFR][1000 genomes]
rs71537791	0.95[EUR][1000 genomes]
rs71537792	0.95[EUR][1000 genomes]
rs71547889	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71547892	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7779786	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv888006	chr7:48467581-48491825	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888007	chr7:48467581-48533508	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48468000-48500000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48469200-48480200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:48471600-48479400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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