Variant report

Variant	rs73351905
Chromosome Location	chr12:60540909-60540910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60540647..60543131-chr12:62652569..62655278,2	K562	blood:
2	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11832585	1.00[EUR][1000 genomes]
rs11832722	0.90[AFR][1000 genomes];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]
rs7132956	1.00[EUR][1000 genomes]
rs73354417	1.00[EUR][1000 genomes]
rs73354432	1.00[EUR][1000 genomes]
rs73355386	1.00[EUR][1000 genomes]
rs73355390	1.00[EUR][1000 genomes]
rs73355396	1.00[EUR][1000 genomes]
rs73357118	1.00[EUR][1000 genomes]
rs73357123	1.00[EUR][1000 genomes]
rs73357124	1.00[EUR][1000 genomes]
rs73357126	1.00[EUR][1000 genomes]
rs73357128	1.00[EUR][1000 genomes]
rs73357137	1.00[EUR][1000 genomes]
rs73357141	1.00[EUR][1000 genomes]
rs73364822	1.00[EUR][1000 genomes]
rs73364863	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73364867	1.00[EUR][1000 genomes]
rs73364871	0.90[AFR][1000 genomes]
rs73364874	1.00[EUR][1000 genomes]
rs73364876	0.90[AFR][1000 genomes];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]
rs73367126	1.00[EUR][1000 genomes]
rs73367133	1.00[EUR][1000 genomes]
rs73367151	1.00[EUR][1000 genomes]
rs73367159	1.00[EUR][1000 genomes]
rs73367163	1.00[EUR][1000 genomes]
rs73368845	1.00[EUR][1000 genomes]
rs73368872	0.96[AFR][1000 genomes]
rs73368875	1.00[EUR][1000 genomes]
rs73368992	1.00[EUR][1000 genomes]
rs73368998	1.00[EUR][1000 genomes]
rs73369000	1.00[EUR][1000 genomes]
rs73370709	1.00[EUR][1000 genomes]
rs73370724	1.00[EUR][1000 genomes]
rs73370735	1.00[EUR][1000 genomes]
rs73370758	1.00[EUR][1000 genomes]
rs73370766	1.00[EUR][1000 genomes]
rs73370770	1.00[EUR][1000 genomes]
rs73370779	1.00[EUR][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	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv511495	chr12:60518599-60541932	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv559108	chr12:60518842-60548334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1793962	chr12:60522630-60541932	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1846332	chr12:60522725-60541932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1851665	chr12:60522725-60549171	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60540000-60542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:60540200-60541800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:60540200-60542600	Enhancers	NHDF-Ad	bronchial
4	chr12:60540400-60542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:60540400-60543400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:60540600-60541600	Weak transcription	K562	blood
7	chr12:60540600-60541800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:60540600-60542400	Enhancers	NHLF	lung

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