Variant report

Variant	rs4242518
Chromosome Location	chr8:3559019-3559020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10091302	0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs10092362	0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10095969	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10109819	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10112162	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11986814	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs12681054	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12681058	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13253574	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs13254157	1.00[YRI][hapmap]
rs13256218	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13264352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13273248	0.92[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13273563	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17067066	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17326685	0.81[CEU][hapmap]
rs2291212	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2291215	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2407122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs35962478	0.81[AMR][1000 genomes]
rs4304341	0.81[AMR][1000 genomes]
rs4348525	0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4355797	0.86[CHB][hapmap];0.80[AMR][1000 genomes]
rs4355798	0.80[AMR][1000 genomes]
rs4433172	0.81[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4498582	0.81[ASN][1000 genomes]
rs4518695	0.86[CHB][hapmap]
rs4618717	0.80[AMR][1000 genomes]
rs4875253	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4875254	0.88[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4875772	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4875773	0.80[CEU][hapmap];0.93[YRI][hapmap]
rs4875775	0.97[YRI][hapmap]
rs5003044	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5003045	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5003046	0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5003047	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs5003048	0.81[AMR][1000 genomes]
rs5003049	0.81[AMR][1000 genomes]
rs5022453	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs62474754	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6984538	0.86[CHB][hapmap]
rs6992262	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7003458	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs7005492	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7008391	0.85[CHB][hapmap]
rs7012632	0.80[CHB][hapmap]
rs73185357	0.82[AMR][1000 genomes]
rs73185372	0.82[AMR][1000 genomes]
rs7462890	0.81[AMR][1000 genomes]
rs7824746	0.81[CEU][hapmap]
rs7826370	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7845193	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs876061	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs878490	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs900097	0.81[AMR][1000 genomes]
rs900098	0.81[AMR][1000 genomes]
rs900099	0.81[AMR][1000 genomes]
rs9314503	0.87[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1028926	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv539353	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv831211	chr8:3504660-3660294	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017752	chr8:3530971-3754478	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv539355	chr8:3530971-3754478	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1025204	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv539356	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1022343	chr8:3553701-3578650	Enhancers Weak transcription Bivalent/Poised TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
16	nsv1015250	chr8:3553750-3565109	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
17	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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