Variant report

Variant	rs2821248
Chromosome Location	chr1:72575560-72575561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789334	0.87[ASN][1000 genomes]
rs12726084	0.87[ASN][1000 genomes]
rs12740789	0.87[ASN][1000 genomes]
rs12748679	0.87[ASN][1000 genomes]
rs1385919	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545933	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1905978	1.00[CEU][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613496	0.87[ASN][1000 genomes]
rs2613497	0.87[ASN][1000 genomes]
rs2613498	0.87[ASN][1000 genomes]
rs2613499	0.87[ASN][1000 genomes]
rs2815764	0.87[ASN][1000 genomes]
rs2901653	0.87[ASN][1000 genomes]
rs34020954	0.87[ASN][1000 genomes]
rs34029663	0.87[ASN][1000 genomes]
rs34124399	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34289700	0.87[ASN][1000 genomes]
rs34361149	0.87[ASN][1000 genomes]
rs34376163	0.87[ASN][1000 genomes]
rs34579341	0.87[ASN][1000 genomes]
rs34723450	0.87[ASN][1000 genomes]
rs34840702	0.87[ASN][1000 genomes]
rs34874247	0.87[ASN][1000 genomes]
rs34940719	0.87[ASN][1000 genomes]
rs35166058	0.87[ASN][1000 genomes]
rs35483896	0.87[ASN][1000 genomes]
rs36075373	0.87[ASN][1000 genomes]
rs61765613	0.87[ASN][1000 genomes]
rs61765616	0.87[ASN][1000 genomes]
rs61765646	0.87[ASN][1000 genomes]
rs61765650	0.87[ASN][1000 genomes]
rs61765651	0.87[ASN][1000 genomes]
rs6665041	0.87[ASN][1000 genomes]
rs6672863	0.87[ASN][1000 genomes]
rs7526028	0.87[ASN][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	chr1:72571600-72576600	Weak transcription	HUVEC	blood vessel
2	chr1:72575400-72576000	Enhancers	Fetal Lung	lung

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