Variant report

Variant	rs34941461
Chromosome Location	chr7:48563140-48563141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12718275	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12718276	0.85[EUR][1000 genomes]
rs12718285	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13221147	0.85[EUR][1000 genomes]
rs13224880	0.83[AMR][1000 genomes]
rs13225206	0.83[AMR][1000 genomes]
rs13226837	0.82[EUR][1000 genomes]
rs13240229	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1527836	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17132435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17132437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34096705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34364517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34449910	0.82[EUR][1000 genomes]
rs34508623	0.85[EUR][1000 genomes]
rs34527719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34544554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34611305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34651672	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34652761	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34768692	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34798730	0.85[EUR][1000 genomes]
rs35022901	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35099077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35512908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35568687	0.83[AMR][1000 genomes]
rs35573123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35600681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35603493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35825254	0.85[EUR][1000 genomes]
rs35896585	0.83[AMR][1000 genomes]
rs35915440	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35987825	0.85[EUR][1000 genomes]
rs55836959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58511932	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58707711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61378229	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61705907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447289	0.85[EUR][1000 genomes]
rs62447291	0.85[EUR][1000 genomes]
rs62447294	0.85[EUR][1000 genomes]
rs62447295	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447308	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447309	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447313	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6583453	0.83[AMR][1000 genomes]
rs6583454	0.83[AMR][1000 genomes]
rs6583455	0.83[AMR][1000 genomes]
rs6973889	0.83[AMR][1000 genomes]
rs6977751	0.83[AMR][1000 genomes]
rs71537791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71537792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71547889	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71547892	0.85[EUR][1000 genomes]
rs7779786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7783364	0.83[AMR][1000 genomes]
rs7793005	0.83[AMR][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:6 , 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	chr7:48562600-48565000	Weak transcription	HMEC	breast
6	chr7:48562800-48565000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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