Variant report

Variant	rs12069314
Chromosome Location	chr1:190184468-190184469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10800940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10920641	0.82[YRI][hapmap]
rs10920656	1.00[AMR][1000 genomes]
rs10920657	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10920664	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10920667	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10920685	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10920695	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs10920698	0.82[YRI][hapmap]
rs10920699	0.82[YRI][hapmap]
rs10920701	0.89[YRI][hapmap]
rs12060718	1.00[YRI][hapmap]
rs12061471	1.00[AMR][1000 genomes]
rs12062310	1.00[AMR][1000 genomes]
rs12063934	1.00[YRI][hapmap]
rs12067650	1.00[AMR][1000 genomes]
rs12070897	1.00[AMR][1000 genomes]
rs12074400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077686	0.91[YRI][hapmap]
rs12078989	1.00[AMR][1000 genomes]
rs12079649	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12080072	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12080920	1.00[AMR][1000 genomes]
rs12082166	1.00[AMR][1000 genomes]
rs12083780	0.91[YRI][hapmap]
rs12084750	0.91[YRI][hapmap]
rs12084800	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12086633	1.00[AMR][1000 genomes]
rs12087388	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12088760	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12090663	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs12090807	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091719	0.89[YRI][hapmap]
rs12093281	1.00[AMR][1000 genomes]
rs12096195	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12097847	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs16832207	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548532	chr1:189758772-190371671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917005	chr1:189855484-190259380	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv832104	chr1:189990148-190186708	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1003035	chr1:190123195-190291554	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv872755	chr1:190135811-190186387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv872756	chr1:190164775-190287713	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190171400-190188000	Weak transcription	Fetal Intestine Large	intestine

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