Variant report

Variant	rs940461
Chromosome Location	chr2:189670082-189670083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10172458	0.81[AMR][1000 genomes]
rs10497682	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1084170	0.84[EUR][1000 genomes]
rs11693891	0.93[AMR][1000 genomes]
rs11901190	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1524377	0.93[AMR][1000 genomes]
rs16830514	0.81[EUR][1000 genomes]
rs16830657	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830658	0.93[AMR][1000 genomes]
rs2690759	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690761	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2708196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708198	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58547931	0.97[EUR][1000 genomes]
rs6726558	0.93[AMR][1000 genomes]
rs6745069	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745091	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs698573	0.81[AMR][1000 genomes]
rs7607418	0.81[AMR][1000 genomes]
rs7609094	0.93[AMR][1000 genomes]
rs781234	0.90[AMR][1000 genomes]
rs781236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781237	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781248	0.81[EUR][1000 genomes]
rs781253	0.81[EUR][1000 genomes]
rs781263	0.93[EUR][1000 genomes]
rs781279	0.97[EUR][1000 genomes]
rs781280	1.00[MEX][hapmap]
rs781281	0.97[EUR][1000 genomes]
rs781283	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs781284	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs781286	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs781287	0.86[ASW][hapmap];0.84[CEU][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.97[EUR][1000 genomes]
rs781288	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189668600-189675400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:189669200-189673200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:189669800-189670200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189669800-189670600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:189670000-189670400	Enhancers	Cortex derived primary cultured neurospheres	brain

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