Variant report

Variant	rs12319603
Chromosome Location	chr12:66963645-66963646
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11176256	0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176257	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176296	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297649	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307899	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12309622	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309778	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309896	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311664	1.00[AMR][1000 genomes]
rs12313212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319060	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321077	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321492	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321495	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377630	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377875	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102568	1.00[AMR][1000 genomes]
rs17102569	1.00[AMR][1000 genomes]
rs1813738	1.00[AMR][1000 genomes]
rs1908122	1.00[AMR][1000 genomes]
rs2009924	1.00[AMR][1000 genomes]
rs57630867	1.00[AMR][1000 genomes]
rs58011515	1.00[AMR][1000 genomes]
rs58314154	1.00[AMR][1000 genomes]
rs58520471	1.00[AMR][1000 genomes]
rs59000682	1.00[AMR][1000 genomes]
rs59253853	1.00[AMR][1000 genomes]
rs60150269	1.00[AMR][1000 genomes]
rs60436125	1.00[AMR][1000 genomes]
rs60605218	1.00[AMR][1000 genomes]
rs60935597	1.00[AMR][1000 genomes]
rs61448698	1.00[AMR][1000 genomes]
rs7974745	1.00[AMR][1000 genomes]
rs7974896	1.00[AMR][1000 genomes]

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2757508	chr12:66905405-66980180	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759906	chr12:66905405-66980180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv34782	chr12:66933542-66971398	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv442275	chr12:66963300-66971024	Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66962600-66964000	Weak transcription	Fetal Brain Female	brain
2	chr12:66962800-66981400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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