Variant report

Variant	rs6987643
Chromosome Location	chr8:118028546-118028547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1001646	1.00[GIH][hapmap]
rs10429428	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10429430	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1155178	1.00[GIH][hapmap]
rs12542825	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12675339	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13269147	0.81[JPT][hapmap]
rs1596895	0.81[JPT][hapmap]
rs17745041	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1995581	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2047962	0.89[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047963	0.86[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2317755	0.89[ASN][1000 genomes]
rs2921722	0.81[JPT][hapmap]
rs3019886	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3020107	0.86[JPT][hapmap]
rs3020108	0.81[JPT][hapmap]
rs3020110	0.86[JPT][hapmap]
rs3020114	0.81[JPT][hapmap]
rs3020115	0.81[JPT][hapmap]
rs3020116	0.81[JPT][hapmap]
rs4242567	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4242568	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs4269571	0.86[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs4510896	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs55926302	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56956780	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58928889	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60486060	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469668	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7013929	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842705	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7845491	0.81[EUR][1000 genomes]
rs921067	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv6360	chr8:118005370-118030914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv527876	chr8:118012265-118037316	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6987643	SNTB1	cis	cerebellum	SCAN
rs6987643	MTBP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118023600-118031600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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