Variant report

Variant	rs12718287
Chromosome Location	chr7:48620704-48620705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs12718264	0.91[AMR][1000 genomes]
rs12718273	0.91[AMR][1000 genomes]
rs12718275	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12718276	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12718283	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221147	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13223000	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13224880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226837	0.91[AMR][1000 genomes]
rs13227867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234500	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13235315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239031	0.91[AMR][1000 genomes]
rs13240229	1.00[ASN][1000 genomes]
rs13244050	0.91[AMR][1000 genomes]
rs1527836	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17132435	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17132437	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17132446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34021932	1.00[ASN][1000 genomes]
rs34096705	1.00[ASN][1000 genomes]
rs34364517	1.00[ASN][1000 genomes]
rs34371536	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418856	0.84[EUR][1000 genomes]
rs34449910	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34508623	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34527719	1.00[ASN][1000 genomes]
rs34544554	1.00[ASN][1000 genomes]
rs34551031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34611305	1.00[ASN][1000 genomes]
rs34651672	1.00[ASN][1000 genomes]
rs34652761	1.00[ASN][1000 genomes]
rs34768692	1.00[ASN][1000 genomes]
rs34798730	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34836438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34974785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35022901	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35072701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35099077	1.00[ASN][1000 genomes]
rs35108065	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35302464	1.00[ASN][1000 genomes]
rs35425284	0.91[AMR][1000 genomes]
rs35512908	1.00[ASN][1000 genomes]
rs35568687	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35573123	1.00[ASN][1000 genomes]
rs35600681	1.00[ASN][1000 genomes]
rs35603493	1.00[ASN][1000 genomes]
rs35621720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825254	1.00[ASN][1000 genomes]
rs35860070	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35896585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901095	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35915440	1.00[ASN][1000 genomes]
rs35952216	0.91[AMR][1000 genomes]
rs35987825	0.91[AMR][1000 genomes]
rs55836959	1.00[ASN][1000 genomes]
rs57739046	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58511932	1.00[ASN][1000 genomes]
rs58707711	1.00[ASN][1000 genomes]
rs59081912	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61378229	1.00[ASN][1000 genomes]
rs61705907	1.00[ASN][1000 genomes]
rs62447289	0.91[AMR][1000 genomes]
rs62447291	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62447294	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62447295	1.00[ASN][1000 genomes]
rs62447308	1.00[ASN][1000 genomes]
rs62447309	1.00[ASN][1000 genomes]
rs62447313	1.00[ASN][1000 genomes]
rs62447314	1.00[ASN][1000 genomes]
rs62447315	1.00[ASN][1000 genomes]
rs62447317	1.00[ASN][1000 genomes]
rs62447319	1.00[ASN][1000 genomes]
rs62447326	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447337	1.00[ASN][1000 genomes]
rs62447338	1.00[ASN][1000 genomes]
rs6583453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71537791	1.00[ASN][1000 genomes]
rs71537792	1.00[ASN][1000 genomes]
rs71547892	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7779786	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7783286	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788437	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803637	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv888008	chr7:48568425-48652224	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48600400-48634200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48618800-48621200	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:48619800-48620800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:48620200-48621400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:48620200-48621600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:48620600-48621200	Active TSS	Brain Anterior Caudate	brain
7	chr7:48620600-48621400	Active TSS	Brain Cingulate Gyrus	brain

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