Variant report

Variant	rs73350794
Chromosome Location	chr12:60196891-60196892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128954	1.00[AMR][1000 genomes]
rs12315879	1.00[AMR][1000 genomes]
rs12322928	0.85[AMR][1000 genomes]
rs1617129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693608	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693610	1.00[AMR][1000 genomes]
rs1693619	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795887	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795891	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795894	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795899	1.00[AMR][1000 genomes]
rs2706281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706314	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706315	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706316	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711681	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711685	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2711694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57108311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60529673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61052111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352606	1.00[AMR][1000 genomes]
rs73352609	1.00[AMR][1000 genomes]
rs73352618	1.00[AMR][1000 genomes]
rs73352638	0.85[AMR][1000 genomes]
rs9668592	0.91[AFR][1000 genomes];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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559101	chr12:60164408-60202218	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv559102	chr12:60164408-60221898	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr12:60186800-60197600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:60190000-60206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:60195200-60199000	Weak transcription	H9 Cell Line	embryonic stem cell

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