Variant report

Variant	rs6933579
Chromosome Location	chr6:67671416-67671417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:67664280..67666953-chr6:67670600..67673248,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12193398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12203791	1.00[AFR][1000 genomes]
rs1453899	1.00[AFR][1000 genomes]
rs2444655	1.00[AFR][1000 genomes]
rs2444671	1.00[AFR][1000 genomes]
rs2444672	1.00[AFR][1000 genomes]
rs2444673	1.00[AFR][1000 genomes]
rs2444677	1.00[AFR][1000 genomes]
rs2444718	1.00[AFR][1000 genomes]
rs2502253	1.00[AFR][1000 genomes]
rs2502290	1.00[AFR][1000 genomes]
rs2503896	1.00[AFR][1000 genomes]
rs2503932	1.00[AFR][1000 genomes]
rs2503935	1.00[AFR][1000 genomes]
rs2503936	1.00[AFR][1000 genomes]
rs2503937	1.00[AFR][1000 genomes]
rs2503938	1.00[AFR][1000 genomes]
rs2503949	1.00[AFR][1000 genomes]
rs34646421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4573065	0.81[EUR][1000 genomes]
rs6455204	1.00[AFR][1000 genomes]
rs6455209	1.00[AFR][1000 genomes]
rs9345932	1.00[AFR][1000 genomes]
rs9345938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9345939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9345941	0.93[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs9345946	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9354503	1.00[AFR][1000 genomes]
rs9354505	1.00[AFR][1000 genomes]
rs9354518	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9360251	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886061	chr6:67048298-67902610	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv948808	chr6:67154418-67790773	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv948518	chr6:67184276-67907571	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031632	chr6:67196653-67833819	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv538290	chr6:67196653-67833819	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv886070	chr6:67488983-68094791	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv886073	chr6:67589752-67737802	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2757174	chr6:67664566-67688283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv2759437	chr6:67664566-67688283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6933579	COL19A1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67671000-67672000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:67671000-67672000	Enhancers	NHEK	skin

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