Variant report

Variant	rs62447314
Chromosome Location	chr7:48560634-48560635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs12718264	0.83[EUR][1000 genomes]
rs12718265	0.83[EUR][1000 genomes]
rs12718273	0.87[EUR][1000 genomes]
rs12718275	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718283	1.00[ASN][1000 genomes]
rs12718284	1.00[ASN][1000 genomes]
rs12718285	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12718286	1.00[ASN][1000 genomes]
rs12718287	1.00[ASN][1000 genomes]
rs13221147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223000	1.00[ASN][1000 genomes]
rs13224880	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13225206	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13226837	0.96[EUR][1000 genomes]
rs13227867	1.00[ASN][1000 genomes]
rs13228431	1.00[ASN][1000 genomes]
rs13230347	1.00[ASN][1000 genomes]
rs13231485	1.00[ASN][1000 genomes]
rs13234500	1.00[ASN][1000 genomes]
rs13235315	1.00[ASN][1000 genomes]
rs13237182	1.00[ASN][1000 genomes]
rs13239031	0.87[EUR][1000 genomes]
rs13240229	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244050	0.87[EUR][1000 genomes]
rs1527836	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132435	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132446	1.00[ASN][1000 genomes]
rs17132489	1.00[ASN][1000 genomes]
rs34021932	1.00[ASN][1000 genomes]
rs34096705	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34364517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34371536	1.00[ASN][1000 genomes]
rs34449910	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34508623	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34527719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34551031	1.00[ASN][1000 genomes]
rs34611305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34651672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34652761	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34768692	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34798730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34836438	1.00[ASN][1000 genomes]
rs34941461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34974785	1.00[ASN][1000 genomes]
rs35022901	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35072701	1.00[ASN][1000 genomes]
rs35099077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35108065	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35302464	1.00[ASN][1000 genomes]
rs35425284	0.87[EUR][1000 genomes]
rs35457699	0.83[EUR][1000 genomes]
rs35512908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35568687	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35573123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35600681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35603493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35621720	1.00[ASN][1000 genomes]
rs35825254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860070	1.00[ASN][1000 genomes]
rs35896585	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35901095	1.00[ASN][1000 genomes]
rs35915440	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952216	0.87[EUR][1000 genomes]
rs35987825	1.00[EUR][1000 genomes]
rs55836959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57739046	1.00[ASN][1000 genomes]
rs58511932	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59081912	1.00[ASN][1000 genomes]
rs61378229	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447286	0.87[EUR][1000 genomes]
rs62447289	1.00[EUR][1000 genomes]
rs62447291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447295	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447308	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447309	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447326	1.00[ASN][1000 genomes]
rs62447337	1.00[ASN][1000 genomes]
rs62447338	1.00[ASN][1000 genomes]
rs6583453	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6583454	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6583455	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6946184	1.00[ASN][1000 genomes]
rs6973889	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6977751	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6977918	1.00[ASN][1000 genomes]
rs71537791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71537792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71547889	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71547892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783286	1.00[ASN][1000 genomes]
rs7783364	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7785482	1.00[ASN][1000 genomes]
rs7788437	1.00[ASN][1000 genomes]
rs7793005	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7803637	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48523800-48574000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48547600-48570600	Weak transcription	Spleen	Spleen
3	chr7:48554000-48564400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:48555400-48570800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:48560400-48560800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:48560400-48561000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:48560400-48561000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:48560400-48561000	Enhancers	HMEC	breast

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