Variant report

Variant	rs73368992
Chromosome Location	chr12:60672292-60672293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11832585	1.00[EUR][1000 genomes]
rs11832722	1.00[EUR][1000 genomes]
rs11834001	1.00[EUR][1000 genomes]
rs1948444	1.00[EUR][1000 genomes]
rs3847659	1.00[EUR][1000 genomes]
rs3847660	1.00[EUR][1000 genomes]
rs4758850	1.00[EUR][1000 genomes]
rs57822720	1.00[EUR][1000 genomes]
rs60891596	1.00[EUR][1000 genomes]
rs7132956	1.00[EUR][1000 genomes]
rs73351905	1.00[EUR][1000 genomes]
rs73355386	1.00[EUR][1000 genomes]
rs73355390	1.00[EUR][1000 genomes]
rs73355396	1.00[EUR][1000 genomes]
rs73357118	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357123	1.00[EUR][1000 genomes]
rs73357124	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357126	1.00[EUR][1000 genomes]
rs73357128	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357137	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357141	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357774	1.00[EUR][1000 genomes]
rs73364863	1.00[EUR][1000 genomes]
rs73364867	1.00[EUR][1000 genomes]
rs73364874	1.00[EUR][1000 genomes]
rs73364876	1.00[EUR][1000 genomes]
rs73365604	1.00[EUR][1000 genomes]
rs73365607	1.00[EUR][1000 genomes]
rs73365610	1.00[EUR][1000 genomes]
rs73365614	1.00[EUR][1000 genomes]
rs73365615	1.00[EUR][1000 genomes]
rs73365622	1.00[EUR][1000 genomes]
rs73365630	1.00[EUR][1000 genomes]
rs73365639	1.00[EUR][1000 genomes]
rs73365644	1.00[EUR][1000 genomes]
rs73365647	1.00[EUR][1000 genomes]
rs73365653	1.00[EUR][1000 genomes]
rs73365654	1.00[EUR][1000 genomes]
rs73366377	0.85[AFR][1000 genomes]
rs73366675	1.00[EUR][1000 genomes]
rs73366682	1.00[EUR][1000 genomes]
rs73368260	1.00[EUR][1000 genomes]
rs73368266	1.00[EUR][1000 genomes]
rs73368845	1.00[EUR][1000 genomes]
rs73368875	1.00[EUR][1000 genomes]
rs73368998	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73369000	1.00[EUR][1000 genomes]
rs73370709	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73370724	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73370735	1.00[EUR][1000 genomes]
rs73370758	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73370766	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73370770	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73370779	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60663800-60675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:60664200-60675400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:60669000-60675400	Weak transcription	Pancreas	Pancrea
4	chr12:60672000-60673800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:60672200-60672600	Enhancers	HUVEC	blood vessel
6	chr12:60672200-60675200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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