Variant report

Variant	rs2630428
Chromosome Location	chr1:72632917-72632918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1026568	1.00[YRI][hapmap]
rs10889943	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194256	1.00[CEU][hapmap]
rs1194258	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1194264	1.00[CEU][hapmap]
rs1194266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194268	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1194279	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194280	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1194285	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1211567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1211923	1.00[EUR][1000 genomes]
rs1460935	1.00[YRI][hapmap]
rs1675351	1.00[EUR][1000 genomes]
rs1675353	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1675354	1.00[EUR][1000 genomes]
rs1675355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1776015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630393	0.84[EUR][1000 genomes]
rs2630396	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630403	1.00[YRI][hapmap]
rs2630410	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2630426	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630429	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630432	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630433	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630434	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2630436	0.89[EUR][1000 genomes]
rs2630437	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2821237	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821238	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2821240	1.00[YRI][hapmap]
rs2821241	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821242	1.00[YRI][hapmap]
rs2821243	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821245	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2821249	0.84[EUR][1000 genomes]
rs2821283	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2821284	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821287	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2821289	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821290	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821291	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821292	1.00[YRI][hapmap]
rs2821294	1.00[CEU][hapmap]
rs2821299	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2821300	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2821302	1.00[YRI][hapmap]
rs4344270	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56256157	0.89[EUR][1000 genomes]
rs6703443	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs72680874	0.89[EUR][1000 genomes]
rs72680879	0.89[EUR][1000 genomes]
rs9425076	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9425080	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv546483	chr1:72581966-72659880	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
14	nsv997768	chr1:72583375-72665268	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
15	nsv546484	chr1:72595125-72667196	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
16	nsv1013250	chr1:72603540-72762582	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv528210	chr1:72606418-72659880	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
18	nsv470715	chr1:72606418-72659880	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
19	nsv1010315	chr1:72615648-72653421	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
20	nsv830192	chr1:72616562-72806118	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv998410	chr1:72618544-72651819	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
22	nsv999081	chr1:72618544-72653421	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
23	nsv1009412	chr1:72618756-72651449	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
24	nsv1013666	chr1:72618756-72653421	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
25	nsv1000451	chr1:72618756-72658214	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
26	nsv516389	chr1:72621463-72657058	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72630800-72633000	Enhancers	HUVEC	blood vessel

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