Variant report

Variant	rs12071668
Chromosome Location	chr1:98504542-98504543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

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	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]
rs12059648	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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071573	0.91[AFR][1000 genomes];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	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]
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:8 , 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
8	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98497200-98509200	Weak transcription	HUVEC	blood vessel
2	chr1:98500200-98508200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:98501200-98506200	Weak transcription	NHDF-Ad	bronchial
4	chr1:98501600-98508200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:98501600-98509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:98501600-98509400	Weak transcription	HSMM	muscle
7	chr1:98501600-98509800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:98502600-98508800	Weak transcription	Osteobl	bone
9	chr1:98503400-98504600	Active TSS	Fetal Brain Female	brain
10	chr1:98504200-98505800	Weak transcription	A549	lung
11	chr1:98504400-98506200	Weak transcription	Fetal Brain Male	brain

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