Variant report

Variant	rs1375138
Chromosome Location	chr4:158842148-158842149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10517684	0.95[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs10857307	0.90[CEU][hapmap];0.93[GIH][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs10857308	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs11100145	0.83[EUR][1000 genomes]
rs12498860	0.85[EUR][1000 genomes]
rs12501025	0.85[EUR][1000 genomes]
rs12504989	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs12505934	0.85[EUR][1000 genomes]
rs12510436	0.84[EUR][1000 genomes]
rs12511544	0.83[EUR][1000 genomes]
rs12511578	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs12511957	0.85[EUR][1000 genomes]
rs12512064	0.85[EUR][1000 genomes]
rs12644342	0.86[EUR][1000 genomes]
rs12650454	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs17036918	0.95[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs17036921	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs1839129	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1839130	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2594763	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2594769	0.86[EUR][1000 genomes]
rs2725499	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35146306	0.83[EUR][1000 genomes]
rs35354204	0.86[EUR][1000 genomes]
rs4129400	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs4132016	0.85[EUR][1000 genomes]
rs4132443	0.81[EUR][1000 genomes]
rs4307005	0.81[EUR][1000 genomes]
rs4460050	0.90[CEU][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs4464607	0.84[EUR][1000 genomes]
rs4629502	0.85[EUR][1000 genomes]
rs4637451	0.81[EUR][1000 genomes]
rs4691449	0.90[CEU][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs57156989	0.83[EUR][1000 genomes]
rs58762368	0.84[EUR][1000 genomes]
rs62335304	0.85[EUR][1000 genomes]
rs62335305	0.85[EUR][1000 genomes]
rs62335306	0.85[EUR][1000 genomes]
rs62335307	0.85[EUR][1000 genomes]
rs62335308	0.85[EUR][1000 genomes]
rs62335310	0.85[EUR][1000 genomes]
rs62335311	0.85[EUR][1000 genomes]
rs62335313	0.85[EUR][1000 genomes]
rs62335314	0.85[EUR][1000 genomes]
rs62335315	0.84[EUR][1000 genomes]
rs62335316	0.84[EUR][1000 genomes]
rs62335317	0.84[EUR][1000 genomes]
rs62335339	0.84[EUR][1000 genomes]
rs62335341	0.82[EUR][1000 genomes]
rs62335345	0.80[EUR][1000 genomes]
rs62335346	0.81[EUR][1000 genomes]
rs6815131	0.82[EUR][1000 genomes]
rs6827475	0.82[EUR][1000 genomes]
rs72965897	0.85[EUR][1000 genomes]
rs72967808	0.85[EUR][1000 genomes]
rs72967836	0.84[EUR][1000 genomes]
rs964237	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs982239	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1025064	chr4:158719316-158898333	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1375138	FAM198B	cis	cerebellum	SCAN
rs1375138	FLJ11155	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158840800-158842200	Enhancers	Fetal Intestine Large	intestine

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