Variant report

Variant	rs1992489
Chromosome Location	chr4:78373883-78373884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10008817	0.82[CEU][hapmap]
rs10017843	0.82[CEU][hapmap]
rs11930677	0.85[EUR][1000 genomes]
rs11931577	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs11934887	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs11936072	0.81[CEU][hapmap]
rs11936117	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs11939449	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11942781	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs11945282	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11946102	0.82[CEU][hapmap]
rs17002675	0.82[CEU][hapmap];0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs17002676	0.82[CEU][hapmap]
rs17002681	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17002682	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17002687	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17002700	0.94[CEU][hapmap];0.82[CHD][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs1867107	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2083701	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs2083702	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119977	0.93[ASN][1000 genomes]
rs2866292	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2903241	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2903242	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4152	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859499	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4859839	0.82[CEU][hapmap]
rs4859840	0.82[CEU][hapmap]
rs4859842	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859843	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859844	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859845	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859846	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55685718	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55729445	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55915318	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56092580	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56107646	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56164638	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62302436	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62302437	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62302438	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62302439	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62302442	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62302445	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6826277	0.94[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs72650428	0.84[ASN][1000 genomes]
rs72650458	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7670432	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676991	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7681293	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7699486	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1992489	SEPT11	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78367800-78374800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:78370600-78374200	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:78371400-78374800	Weak transcription	Fetal Lung	lung
4	chr4:78373200-78375000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:78373800-78374000	Enhancers	Spleen	Spleen

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