Variant report

Variant	rs10506931
Chromosome Location	chr12:86569048-86569049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10506927	0.84[CEU][hapmap]
rs10506928	0.91[CEU][hapmap]
rs10506934	0.84[CEU][hapmap]
rs10779233	0.84[CEU][hapmap]
rs10863163	0.84[CEU][hapmap]
rs11830208	0.84[CEU][hapmap]
rs12298174	0.84[CEU][hapmap]
rs12305255	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12306726	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12307279	0.89[CEU][hapmap]
rs12308575	0.89[CEU][hapmap]
rs12313444	0.84[CEU][hapmap]
rs12315617	0.84[CEU][hapmap]
rs12316480	0.84[CEU][hapmap]
rs12321159	0.84[CEU][hapmap]
rs1389296	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552840	1.00[CEU][hapmap]
rs17284129	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17284484	0.91[CEU][hapmap]
rs17284624	0.84[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17284820	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17285589	0.91[CEU][hapmap]
rs17288800	0.91[CEU][hapmap]
rs17289052	0.84[CEU][hapmap]
rs17289087	0.84[CEU][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap]
rs17289115	0.84[CEU][hapmap]
rs17289150	0.84[CEU][hapmap]
rs17289178	0.84[CEU][hapmap]
rs17357025	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17357233	1.00[CEU][hapmap]
rs17357259	1.00[CEU][hapmap]
rs17357469	1.00[CEU][hapmap]
rs17359446	0.83[CEU][hapmap];0.84[AMR][1000 genomes]
rs17367374	0.84[CEU][hapmap]
rs4586245	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4842454	1.00[CEU][hapmap]
rs4842468	1.00[CEU][hapmap]
rs4842541	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4842557	0.91[CEU][hapmap]
rs4842558	1.00[CEU][hapmap]
rs4842640	0.84[CEU][hapmap]
rs55832610	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55886852	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55998036	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56154427	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57624840	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58024273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59623111	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61931157	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61932264	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932265	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932266	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932268	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932269	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61932270	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61932271	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61932272	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61932274	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61932275	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61948967	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61948994	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61949011	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61949013	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61949036	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61949037	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61949038	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61949039	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61949041	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61949045	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61949047	0.81[AMR][1000 genomes]
rs61949048	0.83[AMR][1000 genomes]
rs61949049	0.83[AMR][1000 genomes]
rs61950663	0.83[AMR][1000 genomes]
rs61950665	0.83[AMR][1000 genomes]
rs7136697	0.84[CEU][hapmap]
rs7486522	0.84[CEU][hapmap]
rs7487426	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs767898	0.84[AMR][1000 genomes]

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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10506931	C12orf26	cis	parietal	SCAN
rs10506931	CEP290	cis	parietal	SCAN
rs10506931	COMMD10	trans	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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