Variant report

Variant	rs2630396
Chromosome Location	chr1:72580670-72580671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10889943	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1194256	1.00[CEU][hapmap]
rs1194258	1.00[CEU][hapmap]
rs1194264	1.00[CEU][hapmap]
rs1194266	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1194268	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1194272	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1194274	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1194279	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1194280	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1194285	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1211567	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1211923	0.89[EUR][1000 genomes]
rs1675351	0.89[EUR][1000 genomes]
rs1675353	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1675354	0.89[EUR][1000 genomes]
rs1675355	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1776015	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630393	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2630410	1.00[CEU][hapmap]
rs2630426	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630427	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630428	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630429	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630430	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630432	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630433	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630434	1.00[CEU][hapmap]
rs2630436	1.00[EUR][1000 genomes]
rs2630437	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2821237	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821238	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2821241	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821243	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2821249	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2821283	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2821284	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821287	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2821289	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821290	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821291	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821294	1.00[CEU][hapmap]
rs2821299	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2821300	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4344270	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56256157	1.00[EUR][1000 genomes]
rs72680874	0.89[EUR][1000 genomes]
rs72680879	0.89[EUR][1000 genomes]
rs9425076	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9425080	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1006076	chr1:72477436-72700903	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv534996	chr1:72477436-72700903	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv870851	chr1:72533927-72611715	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv1013256	chr1:72541220-72620102	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv461906	chr1:72549836-72683226	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv461917	chr1:72549836-72683226	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	nsv546480	chr1:72549836-72683226	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	nsv870742	chr1:72552322-72611715	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv461928	chr1:72555489-72683226	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv546481	chr1:72555489-72683226	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	nsv461939	chr1:72555489-72717743	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv546482	chr1:72555489-72717743	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72580200-72581800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:72580400-72580800	Enhancers	HUVEC	blood vessel

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