Variant report

Variant	rs12059648
Chromosome Location	chr1:98480422-98480423
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11165915	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165925	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165927	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165929	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165931	1.00[AMR][1000 genomes]
rs11165932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165933	1.00[AMR][1000 genomes]
rs11165942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067602	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071573	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076723	1.00[AMR][1000 genomes]
rs12078010	1.00[AMR][1000 genomes]
rs12078571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081421	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087574	1.00[AMR][1000 genomes]
rs12087601	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089739	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091195	1.00[AMR][1000 genomes]
rs12092358	1.00[AMR][1000 genomes]
rs12093406	1.00[AMR][1000 genomes]
rs12093707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097552	1.00[AMR][1000 genomes]
rs28703292	1.00[AMR][1000 genomes]
rs59037638	1.00[EUR][1000 genomes]
rs74106027	1.00[AMR][1000 genomes]
rs74106028	1.00[AMR][1000 genomes]
rs74106030	1.00[AMR][1000 genomes]
rs74106031	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	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv871230	chr1:98436232-98564736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv470729	chr1:98461443-98564736	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv546874	chr1:98461443-98564736	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98463800-98499800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:98471600-98486600	Weak transcription	HSMM	muscle
3	chr1:98475200-98492400	Weak transcription	NHDF-Ad	bronchial

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