Variant report

Variant	rs6838282
Chromosome Location	chr4:158987855-158987856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10003459	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap]
rs10027000	0.87[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10049927	1.00[JPT][hapmap]
rs10517684	0.81[TSI][hapmap]
rs10857307	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs10857308	0.82[CEU][hapmap]
rs11100147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12505752	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12643255	0.83[EUR][1000 genomes]
rs12648000	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144391	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036918	0.81[TSI][hapmap]
rs3934848	0.82[EUR][1000 genomes]
rs4077776	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4388135	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs4460050	0.82[CEU][hapmap]
rs4487405	0.81[ASN][1000 genomes]
rs4574459	0.81[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4631100	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4691449	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs4691451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691460	0.87[CHB][hapmap]
rs62335358	0.82[EUR][1000 genomes]
rs62335359	0.82[EUR][1000 genomes]
rs62336960	0.82[EUR][1000 genomes]
rs62336961	0.82[EUR][1000 genomes]
rs62336984	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6814979	0.94[CHB][hapmap];0.81[CHD][hapmap]
rs6830475	0.87[CHB][hapmap]
rs6833295	0.87[CHB][hapmap]
rs6843728	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap]
rs6848159	0.84[ASN][1000 genomes]
rs7657303	0.81[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7692254	0.94[CHB][hapmap];0.82[CHD][hapmap]
rs9968557	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6838282	FLJ11155	cis	multi-tissue	Pritchard
rs6838282	FAM198B	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158985800-158988000	Enhancers	HUVEC	blood vessel
2	chr4:158985800-158989200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:158987200-158989000	Weak transcription	Fetal Heart	heart

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