Variant report

Variant	rs931167
Chromosome Location	chr8:51470230-51470231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10095638	0.85[CEU][hapmap]
rs10099354	0.85[CEU][hapmap]
rs10103289	0.82[CEU][hapmap]
rs10105436	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs1033001	0.85[CEU][hapmap]
rs11991826	0.81[YRI][hapmap]
rs12549578	0.85[CEU][hapmap]
rs1481480	0.84[EUR][1000 genomes]
rs1508625	0.82[CEU][hapmap]
rs1532995	0.85[CEU][hapmap]
rs1546450	0.85[CEU][hapmap]
rs16915033	0.83[GIH][hapmap]
rs16915106	0.81[YRI][hapmap]
rs16915112	0.81[YRI][hapmap]
rs1911833	0.85[CEU][hapmap]
rs2016596	1.00[CEU][hapmap]
rs2048210	0.85[CEU][hapmap]
rs4873474	0.85[CEU][hapmap]
rs6473235	0.87[CEU][hapmap]
rs6473238	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs6473291	0.85[CEU][hapmap]
rs7000881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7003356	0.85[CEU][hapmap]
rs7842259	0.87[CEU][hapmap]
rs7846000	0.85[CEU][hapmap]
rs922724	0.84[EUR][1000 genomes]
rs996166	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs996167	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1029576	chr8:51418003-51476385	ZNF genes & repeats Strong transcription Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1022304	chr8:51442784-51475071	ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv539608	chr8:51442784-51475071	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv1030044	chr8:51442827-51476385	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs931167	UBASH3B	trans	lymphoblastoid	seeQTL
rs931167	ADCY1	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51469400-51470400	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:51470200-51471200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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