Variant report

Variant	rs12063514
Chromosome Location	chr1:103610579-103610580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11164656	1.00[TSI][hapmap]
rs11164671	1.00[EUR][1000 genomes]
rs11164674	1.00[EUR][1000 genomes]
rs11164688	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164691	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164692	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164700	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164708	0.96[AFR][1000 genomes]
rs12057475	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12067382	1.00[EUR][1000 genomes]
rs12074511	1.00[EUR][1000 genomes]
rs12088375	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094397	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12096038	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13374856	1.00[TSI][hapmap]
rs56739111	0.84[AFR][1000 genomes]
rs57273500	1.00[EUR][1000 genomes]
rs57416339	1.00[EUR][1000 genomes]
rs57799890	0.90[AFR][1000 genomes]
rs57811182	1.00[EUR][1000 genomes]
rs58822881	0.83[AFR][1000 genomes]
rs72987884	1.00[EUR][1000 genomes]
rs72987888	1.00[EUR][1000 genomes]
rs72989807	1.00[EUR][1000 genomes]
rs72989819	1.00[EUR][1000 genomes]
rs72991510	0.93[AFR][1000 genomes]
rs72991548	0.90[AFR][1000 genomes]
rs72991550	0.81[AFR][1000 genomes]
rs74108574	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7552870	1.00[TSI][hapmap]

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	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv947301	chr1:103609727-103612757	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103596000-103611000	Weak transcription	HSMM	muscle
2	chr1:103605600-103610600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:103610200-103612600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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