Variant report

Variant	rs4875773
Chromosome Location	chr8:3560723-3560724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10095031	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10111000	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10111124	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11986814	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11987544	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11997333	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12541682	0.85[CEU][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap]
rs12542438	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12542491	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12544075	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs12549057	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12549821	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12681054	0.81[AFR][1000 genomes]
rs12681058	0.81[AFR][1000 genomes]
rs13253574	0.86[MEX][hapmap]
rs13254157	0.90[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap]
rs13264352	0.91[MEX][hapmap]
rs13269170	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13273248	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs17067066	0.82[MEX][hapmap]
rs17326642	0.91[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17326663	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17326670	0.81[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17326685	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291215	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs34431742	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35064803	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35883758	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35959066	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36013826	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3739354	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4242518	0.80[CEU][hapmap];0.93[YRI][hapmap]
rs4355798	0.82[JPT][hapmap]
rs4433172	0.86[MEX][hapmap]
rs4875254	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs4875775	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7008391	0.86[MEX][hapmap]
rs7824746	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs7826370	0.85[CEU][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap]
rs876061	0.81[JPT][hapmap]
rs878490	0.81[CEU][hapmap];0.92[YRI][hapmap]
rs9314503	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 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
18	nsv498034	chr8:3559289-3846288	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4875773	DEFA4	cis	cerebellum	SCAN

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

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dbSNP/dbVar ID: rs12345 /nsv7879
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