Variant report

Variant	rs13230347
Chromosome Location	chr7:48591588-48591589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11772384	1.00[CHD][hapmap]
rs12718275	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12718276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12718283	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718285	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718290	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs12718292	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs13221147	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];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[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239031	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13240229	1.00[ASN][1000 genomes]
rs1527836	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs17132435	1.00[CHB][hapmap];1.00[CHD][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];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418856	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34449910	1.00[ASN][1000 genomes]
rs34508623	1.00[ASN][1000 genomes]
rs34527719	1.00[ASN][1000 genomes]
rs34544554	1.00[ASN][1000 genomes]
rs34551031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34798730	1.00[ASN][1000 genomes]
rs34836438	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34974785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35022901	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35072701	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35099077	1.00[ASN][1000 genomes]
rs35108065	1.00[ASN][1000 genomes]
rs35302464	1.00[ASN][1000 genomes]
rs35512908	1.00[ASN][1000 genomes]
rs35568687	0.83[AMR][1000 genomes];0.97[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	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825254	1.00[ASN][1000 genomes]
rs35860070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35896585	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901095	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35915440	1.00[ASN][1000 genomes]
rs55836959	1.00[ASN][1000 genomes]
rs57739046	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58511932	1.00[ASN][1000 genomes]
rs58707711	1.00[ASN][1000 genomes]
rs59081912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61378229	1.00[ASN][1000 genomes]
rs61705907	1.00[ASN][1000 genomes]
rs62447291	1.00[ASN][1000 genomes]
rs62447294	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	0.97[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[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71537791	1.00[ASN][1000 genomes]
rs71537792	1.00[ASN][1000 genomes]
rs71547892	1.00[ASN][1000 genomes]
rs7779786	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7783286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783364	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785482	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793005	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803637	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
3	esv2764056	chr7:48580914-48592025	Enhancers Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
4	esv11768	chr7:48581423-48592171	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
5	nsv514416	chr7:48581830-48592050	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
6	esv1818564	chr7:48581852-48592025	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv2421774	chr7:48581852-48592025	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
8	nsv442042	chr7:48581852-48592025	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	nsv527625	chr7:48586783-48596337	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48589200-48602800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48590800-48591600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:48590800-48592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:48591400-48591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:48591400-48592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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